MUSCULAR SYSTEM DISORDERS

Amyotrophy

Amyotrophyis progressive wasting ofmuscletissues. Muscle pain is also a symptom. It can occur in middle-aged males with type 2 diabetes. It also occurs withmotor neuron disease.

Proximal diabetic neuropathyFrom Wikipedia, the free encyclopediaProximal diabetic neuropathy, also known aslumbosacral radioplexus neurophagy,femoral neurophagyanddiabetic amyotrophy, is a nerve disorder that results as a complication of diabetes mellitus. It affects the thighs, hips, buttocks and legs. Proximal diabetic neurophagy is a peripheral nerve disease (diabetic neuropathy) characterized by painful muscle wasting and weakness.[1]Diabetic neuropathy is a common complication ofdiabetes. It is defined as damage to the nerves that allow you to feel the sensation pain. There are a number of ways that diabetes damages the nerves, all of which seem to be related to increased blood sugar levels over a long period of time. Proximal diabetic neuropathy is one of four types of diabetic neuropathy.[2]Proximal diabetic neuropathy can occur in type 2 and type 1diabetes mellituspatients however, it is most commonly found in type 2 diabetes patients.[3]Proximal neuropathy is the second most common type ofdiabetic neuropathyand can be resolved with time and treatment.Signs & SymptomsSymptomsof proximal diabetic neuropathy depend on which nerves are affected. The first symptom is usually pain in the buttocks, hips, thighs or legs. This pain most commonly affects one side of the body and can either start gradually, seemingly minor at first, or can come on all of a sudden. This is followed by intense weakness in theproximal musclesof the lower limbs that can result in patients being unable to go from a sitting to standing position without assistance.[3]This weakness beginsunilaterallybut can also spreadbilaterally.[1]Proximal diabetic neuropathy is often accompanied bypolyneuropathy, a malfunction of manyperipheral nervesat the same time, andmuscle fasciculation, small,involuntarymuscle twitches or contractions that are visible under the skin.[1][5][6]CausesThe nerve damage associated with the disease was first thought to be caused by metabolic changes such as endoneurial microvessel disease, which is the degeneration ofpericytesdue tohyperglycemia, and the reproduction of basement membranes when the pericytes are no longer regulating their cell cycle. The decreased size of the lumen plus the absence of the pericyte, which regulate capillary blood flow andphagocytosisof cellular debris, leads toischemia. Nerve biopsies have shifted the view toward an immune mechanism that causesMicro Vasculitis, which could eventually lead to ischemia.[7]Experimental treatments using immunosuppressive proteins have provided further corroborative evidence to the immune mechanism theory.[8]Although this disease does occur in patients without diabetes the prevalence is much greater in the diabetic indicating that although hyperglycemia does not directly cause the nerve damage it may play a roleDiagnosisThough very difficult to diagnose because of the similarity to other diseases, the causes are often due toneurologicallesions on the nerve endings that are created by improperglucoselevels in the muscles, resulting in extreme pain and muscle wasting.[9]To definitively diagnose the condition,electrodiagnostictesting can be used. In addition, needleelectromyographyandnerveconduction testing are often used to support the diagnostic and to rule out other possible conditions.TreatmentProper management ofdiabetes mellituscan preventproximal diabetic neuropathyfrom ever occurring.Proximal diabetic neuropathy is very much reversible.[citation needed]This can be done by taking various measures such as: Controlling the blood sugar levels Proper eating habits, medication, physical exercise, good mental health and avoiding harmful habits like drinking, smoking etc. all form a part of the lifestyle to control diabetes. Physical therapyto restore the nerves in the legs is very useful, it brings back feeling in the legs. Medication helps reduce the pain involved inproximal diabetic neuropathy. Most patients take oral medication that is prescribed by a doctor. Common types includeantidepressants,opiatesor opiate like drugs, andanticonvulsants.[3]Length of treatment varies with the amount ofnerve damage.[4]The maintreatmentof diabetic amyotrophy ismanagingthe individuals diabetes and glycemic levels.[11]Once they have done these two tasks they will notice an improvement. Receiving an IV of acorticosteroidor taking animmunosuppressant drug, will help to relieve pain and start regaining strength.[12][13]While doing any of thetreatmentoptions they should also be working with either a physical therapist or occupational therapist to start gaining muscle strength back.

Monomelic amyotrophyFrom Wikipedia, the free encyclopediaMonomelic amyotrophy(MMA), also known asHirayama disease,Sobue disease,juvenile non-progressive amyotrophyandjuvenile asymmetric segmental spinal muscular atrophy(JASSMA) is an untreatable, focalmotor neuron diseasethat primarily affects young (1525 year old) males inIndiaandJapan. MMA is marked by insidious onset of muscularatrophy, which stabilizes at a plateau after two to five years from which it neither improves nor worsens. There is no pain or sensory loss associated with MMA. Unlike other lowermotor neuron diseases, MMA is not believed to behereditaryandfasciculations(involuntary muscle twitches) are rare.EMGtests reveal loss of the nerve supply, or denervation, in the affected limb withoutconduction block(nerve blockage restricted to a small segment of the nerve). Increasedsweating, coldness andcyanosishave been reported for a few patients, indicating involvement of thesympathetic nervous system.While MMA will cause weakness and/or wasting in only one limb,EMGandNCVtests often show signs ofreinnervationin the unaffected limbs.TreatmentThere is no cure for MMA. Treatment consists of muscle strengthening exercises and training in hand coordination. It has been proposed that that the changes in this disease are from compression of the spinal cord in flexion due to forward shifting of the posterior dural sac.[1]There have been treatements studies ranging from use of a cervical collar[2]to anterior cervical fusion and posterior decomression.[3]PrognosisThe symptoms of MMA usually progress slowly for one to two years before reaching a plateau, and then remain stable for many years. Disability is generally slight. Rarely, the weakness progresses to the opposite limb. There is also a slowly progressive variant of MMA known asO'Sullivan-McLeod syndrome, which only affects the small muscles of the hand and forearm and has a slowly progressive course.EpidemiologyMMA occurs in males between the ages of 15 and 25. Onset and progression are slow. MMA is seen most frequently in Asia, particularly in Japan and India; it is much less common in North America.

Anterior compartment syndrome of the lower legAcompartment syndromeis an increased pressure within a muscular compartment[1]that compromises the circulation to the muscles.PathologyA compartment space is anatomically determined by an unyieldingfascial(andosseous) enclosure of the muscles. The anterior compartment syndrome of thelower leg(often referred to simply as anterior compartment syndrome), can affect any and all four muscles of that compartment:tibialis anterior,extensor hallucis longus,extensor digitorum longus, andperoneus tertius.This term is often mistakenly used to describe various related/proximal conditions, including AnteriorShin Splints. It is important to distinguish between the two, as shin splints rarely causes serious health problems, while Anterior Compartment Syndrome can lead to irreversible damage.The true compartment syndrome arises due to increased pressure within the unyieldinganterior compartment of the leg. The pressure obstructs venous outflow, which causes further swelling and increased pressure. The resultantischemialeads tonecrosis(death of tissue) of the muscles and nerves. The process can begin with swelling of the tibialis anterior, extensor hallucis longus, extensor digitorum longus, and/or the peroneus tertius muscles in response to strongeccentric contractionssufficient to produce postexercise soreness.SymptomsDiffuse tightness and tenderness over the entire belly of the tibialis anterior that does not respond to elevation orpain medicationcan be early warning signs and suggestive of Anterior Compartment Syndrome. Other common symptoms include excessive swelling that causes theskinto become hot, stretched and glossy. Pain,paresthesias, and tenderness in both the ischemic muscles and the region supplied by the deepcommon fibular nerveare exhibited by patients suffering from this condition. Sensitivity to passive stretch and active contraction are common, and tend to increase the symptoms.

.DiagnosisIf these symptoms are observed/experienced it is important to contact a physician specializing insports medicine(MD/DO), adoctor of podiatric medicine(DPM), or other qualified health care professional immediately so as to get the appropriate advice/treatment before serious damage occurs.The 5 Ps of Anterior Compartment Syndrome:1. Pain2. Pallor3. Paresthesia4. Pulselessness5. Paralysis (If not treated)

BimagrumabFrom Wikipedia, the free encyclopediaBimagrumab (BYM338)is a humanmonoclonal antibodydeveloped byNovartisto treat pathological muscle loss and weakness. On August 20, 2013 it was announced that bimagrumab was granted breakthrough therapy designation for sporadicinclusion body myositis(sIBM) by USFood and Drug Administration.

CataplexyFrom Wikipedia, the free encyclopediaCataplexyis a sudden and transient episode of muscle weakness accompanied by full conscious awareness, typically triggered by emotions such as laughing, crying, terror, etc.[1]It is the cardinal symptom of narcolepsy with cataplexy affecting roughly 70% of people who havenarcolepsy,[2]and is caused by an autoimmune destruction of the neurotransmitterhypocretin, which regulates arousal and wakefulness. Cataplexy without narcolepsy is rare and the cause is unknown.The term cataplexy originates from theGreek (kata, meaning "down"), and (plxis, meaning "stroke").Presentation[edit]Cataplexy manifests itself as muscularweaknesswhich may range from a barely perceptible slackening of the facialmusclesto complete muscle paralysis with postural collapse.[3]Attacks are brief, most lasting from a few seconds to a couple of minutes, and typically involve dropping of the jaw, neck weakness, and/or buckling of the knees, similar to symptoms experienced by notable individuals, such asUbong Ben-Ebong. Even in a full-blown collapse, patients are usually able to avoid injury because they learn to notice the feeling of the cataplectic attack approaching and the fall is usually slow and progressive.[4]Speech may be slurred andvisionmay be impaired (double vision, inability to focus), but hearing andawarenessremain normal.Cataplexy attacks are self-limiting and resolve without the need for medical intervention. If the patient is reclining comfortably, he or she may transition into sleepiness, hypnagogic hallucinations, or a sleep-onsetREMperiod. While cataplexy worsens with fatigue, it is different fromnarcoleptic sleep attacksand is usually, but not always triggered by strong emotional reactions such aslaughter,anger,surprise,awe, andembarrassment, or by sudden physical effort, especially if the person is caught off guard.[5]One well known example of this was the reaction of1968 Olympiclong jumpmedalistBob Beamonon understanding that he had broken the previous world record by over 0.5 meters (2 feet).[6]Cataplectic attacks may also occur spontaneously with no identifiable emotional trigger.[7]PhysiologyCataplexy is considered secondary when it is due to specific lesions in the brain that cause a depletion of the hypocretin neurotransmitter. Secondary cataplexy is associated with specific lesions located primarily in the lateral and posterior hypothalamus. Cataplexy due tobrainstemlesions is uncommon particularly when seen in isolation. The lesions include tumors of the brain or brainstem and arterio-venous malformations. Some of the tumors include astrocytoma, glioblastoma, glioma, and subependynoma. These lesions can be visualized with brain imaging, however in their early stages they can be missed. Other conditions in which cataplexy can be seen includeischemicevents,multiple sclerosis,head injury,paraneoplastic syndromes, and infections such asencephalitis. Cataplexy may also occur transiently or permanently due to lesions of the hypothalamus that were caused by surgery, especially in difficult tumor resections. These lesions or generalized processes disrupt the hypocretin neurons and their pathways. The neurological process behind the lesion impairs pathways controlling the normal inhibition of muscle tone drop, consequently resulting inmuscle atonia.[8]Theories for episodesA phenomenon ofREM sleep, muscular paralysis, occurs at an inappropriate time. This loss of tonus is caused by massive inhibition of motor neurons in the spinal cord. When this happens during waking, the victim of a cataplectic attack loses control of his or her muscles. As in REM sleep, the person continues to breathe and is able to control eye movements.[9]StudiesA study of 40 cataplectic patients (age range 1323 years) reported that sagging of the jaw, inclined head, drooping of the shoulders, and transient buckling of the knees were the most common presentations. Slurred speech may be present. However, diaphragmatic paralysis resulting in central apneas has not been reported. There is an isolated form that involves facial muscles exclusively. Cataplexy may rapidly reoccur repeatedly, giving birth to "status cataplecticus", and to the "limp man syndrome" as described by Stalh et al. "Status cataplecticus" is rare and can be extremely disabling to the individual. Cataplexy also occurs more frequently in times of emotional stress and when patients are deprived of napping while sleepy.[10]A survey of 100 cataplectic patients from the Stanford Sleep Disorders Clinic (age range 1424 years) reported that 93 percent of the attacks lasted less than two minutes, 6 percent reported events lasting up to five minutes, and 0.94 percent reported events lasting longer than five minutes. There is a bimodal pattern of the age of onset of symptoms; either at 15 or 35 years. It has also been reported past the age of forty. Guilleminault et al. investigated 51 prepubertal children with narcolepsy; in 10 subjects (5 years and younger) cataplexy was the symptom first recognized. Cataplectic symptoms in general tend to decrease with age. A review of 100 patients with cataplexy at the Stanford Sleep Disorders Clinic (age range 1220 years) reported that 62 of these patients stopped taking anti-cataplectic medications after 10 years. However, the general decrease in cataplectic symptoms with aging may be reversed after the experience of a significant emotional upset, such as a loss of spouse in older subjects.[11]HypocretinThe hypothalamus region of the brain regulates basic functions of hormone release, emotional expression and sleep. A study in 2006 in "Tohoku Journal of Experimental Medicine" concluded that the neurochemical hypocretin, which is regulated by the hypothalamus, was significantly reduced in study participants with symptoms of cataplexy. Orexin, also known as Hypocretin, is a primary chemical important in regulating sleep as well as states of arousal. Hypocretin deficiency is further associated with decreased levels of histamine and epinephrine, which are chemicals important in promoting wakefulness, arousal and alertness.[12]TreatmentCataplexy is treated pharmacologically. There are no behavioral treatments for cataplexy. The cholinergic and noradrenergic neurotransmitter systems are targeted in the treatment of cataplexy. Despite its relation to narcolepsy, in most cases, cataplexy must be treated differently and separate medication must be taken. For many years, cataplexy has been treated with tricyclic antidepressants such asimipramine,clomipramineorprotriptyline. The main feature of tricyclics is their ability to inhibit the reuptake of norepinephrine and serotonin at the nerve endings.[13]However these can have unpleasant side-effects and have been generally replaced by newer drugs such asvenlafaxine.For cataplexy associated with narcolepsy,Xyrem(sodium oxybate) is often recommended.[14]Monoamine oxidase inhibitorsmay be used to manage both cataplexy and the REM sleep-onset symptoms of sleep paralysis andhypnagogic hallucinations.[15]Wise (2004) noted that people withnarcolepsywill often try to avoid thoughts and situations that they know are likely to evoke strong emotions because they know that these emotions are likely to trigger cataplectic attacks.[16]A newer class of antidepressants with selective serotonergic reuptake blocking properties known as the selective serotonin reuptake inhibitorsfluoxetine,paroxetine,sertraline,citalopramhas become popular for the treatment of cataplexy. This class of drugs has an active metabolite with norepinephrine reuptake blocking properties (such as nor-fluoxetine). Serotonin reuptake inhibitors (SSRIs) have fewer side effects compared to the tricyclics and can be used in adults and children. A side effect worth mentioning regarding tricyclic antidepressants and SSRIs is the risk of development of REM behavior disorder (RBD) due to elimination of the normal REM sleep atonia. These drugs are known to decrease stage REM sleep. They can also decrease muscle atonia associated with REM sleep and consequently dissociate REM sleep. As a consequence, the subject may act out his or her dreams and cause harm to himself/herself or others.Emerging therapiesEmerging therapies include Hypocretin Gene Therapy and Hypocretin Cell Transplantation for narcolepsy-cataplexy. The newest agent for the treatment of cataplexy is sodium oxybate (gamma-hydroxybutyrate [GHB]), known commercially as Xyrem. Although its mechanism is unknown, it reduces cataplectic attacks and other manifestations of REM sleep. GHB increases slow wave sleep, decreases nighttime awakenings, and consolidates REM sleep. Sodium oxybate is the only medication that will improve both cataplexy and daytime sleepiness. Cataplectic symptoms are improved much faster. Because it can cause daytime sleepiness, during this time, sodium oxybate should be taken concomitantly with a stimulant.

Central core disease of muscleCentral core disease of muscle(CCD,CCO), also known asmulticore myopathy,multiminicore diseaseandcongenital neuromuscular disease with uniform type 1 bers(CNMDU1), is a raremyopathydisorder characterised by "early onset of symptoms, mildproximalweakness,hyporeflexiaorareflexia, normal serum muscle enzyme levels, short duration ofmotor unitpotentials, uniform type 1fibers, and nonprogression".[1]The disease has a mild and non-progressive course and usually manifests by weakness of hands.

Charley horseCharley horseis a popularcolloquialterm inCanadaand theUnited Statesfor painful spasms orcrampsin theleg muscles, typically lasting anywhere from a few seconds to about a day. It can also refer to a bruise on an arm or leg and a bruising of thequadricepsmuscle of the anterior or lateral thigh, orcontusionof the femur, that commonly results in ahaematomaand sometimes several weeks of pain and disability. In this latter sense, such an injury is known asdead leg.[1]InAustraliait is also known as acorked thighorcorky.[2]It often occurs incontact sports, such as football when an athlete suffers a knee (blunt trauma) to the lateral quadriceps causing a haematoma or temporary paresis and antalgic gait as a result of pain. Another term,jolly horse, is used to describe simple painful musclecrampsin the leg or foot, especially those that follow strenuous exercise.The term can be used to refer to cramps in the foot muscles.These muscle cramps can have many possible causes directly resulting from high or low pH or substrate concentrations in the blood, includinghormonal imbalances, low levels ofmagnesium,potassiumorcalcium,dehydration,[3]side effects of medication, or, more seriously, diseases such asamyotrophic lateral sclerosisandneuropathy.[4]They are also a common complaint duringpregnancy.TreatmentRelief is usually given by either massaging or stretching the foot, ankle or knee in the opposite direction of the spasm.Colloquial advice suggests that dietary deficiency of potassium, found richly in bananas and many vegetables,[6]is a common cause of these spasms.

Chronic progressive external ophthalmoplegiaFrom Wikipedia, the free encyclopediaChronic progressive external ophthalmoplegia(CPEO), also known asprogressive external ophthalmoplegia(PEO), is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows.[1]It is often the only feature ofmitochondrial disease, in which case the term CPEO may be given as thediagnosis. In other people suffering from mitochondrial disease, CPEO occurs as part of asyndromeinvolving more than one part of the body, such asKearns-Sayre syndrome. Occasionally CPEO may be caused by conditions other than mitochondrial diseases.IntroductionCPEO is a rare disease that may affect those of all ages, but typically manifests in the young adult years. CPEO is the most common manifestation ofmitochondrial myopathy, occurring in an estimated two-thirds of all cases of mitochondrial myopathy. Patients typically present withptosis(drooping eyelids). Other diseases likeGraves' disease,myasthenia gravisand glioma that may cause an externalophthalmoplegiamust be ruled out.Signs and symptomsOf CPEO itselfCPEO is a slowly progressing disease. It may begin at any age and progresses over a period of 515 years.[1]The first presenting symptom ofptosisis often unnoticed by the patient until the lids droop to the point of producing a visual field defect. Often, patients will tilt the head backwards to adjust for the slowly progressing ptosis of the lids. In addition, as the ptosis becomes complete, the patients will use the frontalis (forehead) muscle to help elevate the lids. The ptosis is typically bilateral, but may be unilateral for a period of months to years before the fellow lid becomes involved.Ophthalmoplegia or the inability/difficulty to move the eye is usually symmetrical. As such, double vision is sometimes a complaint of these patients. In fact, the progressive ophthalmoplegia is often unnoticed till decreased ocular motility limits peripheral vision. Often someone else will point out the ocular disturbance to the patient. Patients will move their heads to adjust for the lost of peripheral vision caused by inability to abduct or adduct the eye. All directions of gaze are affected, however, downward gaze appears to be best spared. This is in contrast toProgressive Supranuclear Palsy(PSP) which typically affects vertical gaze and spares horizontal gaze.Occurring alongside CPEOWeakness of extraocular muscle groups including, theorbicularis oculimuscle as well as facial and limb muscles may be present in up to 25% of patients with CPEO. As a result of the orbicularis oculi weakness, patients may suffer from exposure keratopathy (damage to cornea) from the inability to close the eyes tightly. Frontalis muscle weakness may exacerbate the ptotic lids with the inability to compensate for the ptosis. Facial muscles may be involved which lead to atrophy of facial muscle groups producing a thin, expressionless face with some having difficulty with chewing. Neck, shoulder and extremity weakness with atrophy may affect some patients and can be mild or severe.Mild visual impairment was seen in 95% of patients that were evaluated using the Visual Function Index (VF-14).[2]Theciliary musclesthat control the lens shape and the iris muscles are often unaffected by CPEO.Additional symptoms are variable, and may include exercise intolerance,cataracts, hearing loss, sensory axonal neuropathy,ataxia, clinical depression,hypogonadism, andparkinsonism.Kearns-Sayre syndrome, is characterized by onset before 15 years of age of CPEO, heart block and pigmentary retinopathy.[1]GeneticsMitochondrial DNAwhich is transmitted from the mother, encodes proteins that are critical to the respiratory chain required to produceadenosine triphosphate(ATP). Deletions or mutations to segments of mtDNA lead to defective function of oxidative phosphorylation. This may be made evident in highly oxidative tissues like skeletal muscle and heart tissue. However,extraocular musclescontain a volume of mitochondria that is several times greater than any other muscle group. As such, this results in the preferential ocular symptoms of CPEO.Multiple mtDNA abnormalities exist which cause CPEO. One mutation is located in a conserved region of mitochondrial tRNA at nucleotide 3243 in which there is an A to G nucleotide transition. This mutation is associated with both CPEO andMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS).[3]A common deletion found in one-third of CPEO patients is a 4,977 base pair segment found between a 13 base pair repeat.The mtDNA that is affected maybe a single or multiple point deletion, with associated nuclear DNA deletions. One study showed that mtDNA deletion seen in CPEO patients also had an associated nuclear DNA deletion of theTwinkle genewhich encodes specific mitochondrial protein; Twinkle.[4]Whether a tissue is affected is correlated with the amount of oxidative demands in relation to the amount of mtDNA deletion.In most cases, PEO occurs due to a sporadic deletion or duplication within the mitochondrial DNA.[5]However, transmission from the mother to the progeny appears only in few cases. Bothautosomal dominantandautosomal recessiveinheritance can occur, autosomal recessive inheritance being more severe. Dominant and recessive forms of PEO can be caused by genetic mutations in theANT1,POLG,POLG2andPEO1genes.DiagnosisIt is important to differentiate CPEO from other pathologies that may cause an ophthalmoplegia. There are specific therapies used for these pathologies.CPEO is diagnosed via muscle biopsy. On examination of muscle fibers stained withGmri trichrome stain, one can see an accumulation of enlarged mitochondria. This produces a dark red staining of the muscle fibers given the name ragged red fibers. While ragged red fibers are seen in normal aging, amounts in excess of normal aging give a diagnosis of a mitochondrial myopathy.Polymerase Chain Reaction (PCR), from a sample of blood or muscle tissue can determine a mutation of the mtDNA.Elevated acetylcholine receptor antibody level which is typically seen in myasthenia gravis has been seen in certain patients of mitochondrial associated ophthalmoplegia.[7]It is important to have a dilated eye exam to determine if there is pigmentary retinopathy that may signifyKearns-Sayre syndromewhich is associated with cardiac abnormalities.MRI may be helpful in the diagnosis, in one study volumes of medial rectus, lateral rectus, and inferior rectus muscles in CPEO were not smaller than normal (in contrast to the profound atrophy typical of neurogenic paralysis). Although volumes of the superior rectus muscle-levator complex and superior oblique were significantly reduced.[8]TreatmentThere is currently no defined treatment to ameliorate the muscle weakness of CPEO. Treatments used to treat other pathologies causing ophthalmoplegia has not been shown to be effective.Experimental treatment with tetracycline has been used to improve ocular motility in one patient.[9]Coenzyme Q10has also been used to treat this condition.[10]However, most neuro-ophthalmologists do not ascribe to any treatment.Ptosis associated with CPEO may be corrected with surgery to raise the lids, however due to weakness of the orbicularis oculi muscles, care must be taken not to raise the lids in excess causing an inability to close the lids. This results in an exposure keratopathy. Therefore, rarely should lid surgery be performed and only by a neuro-ophthalmologist familiar with the disease.The most common strabismus findings is large angle exotropias which can be treated by maximal bilateral eye surgery, but due to the progressive nature of the disease, strabismus may recur.[11]Those that havediplopiaas a result of asymmetric ophthalmoplegia maybe corrected with prisms or with surgery to create a better alignment of the eyes.

ContractureFrom Wikipedia, the free encyclopediaA musclecontractureis a permanent shortening of amuscle[1]orjoint.[2]It is usually in response to prolongedhypertonicspasticityin a concentrated muscle area, such as is seen in the tightest muscles of people with conditions likespastic cerebral palsy.Contractures are essentially muscles or tendons that have remained too tight for too long, thus becoming shorter. Once they occur, it is often argued that they cannot be stretched or exercised away (they must be released withorthopedic surgery). Most of thephysical therapy,occupational therapy, and other exercise regimens targeted towards people withspasticityfocuses on trying to prevent contractures from happening in the first place. However, research on sustained traction of connective tissue in approaches such as adaptive yoga has demonstrated that contracture can be reduced,[3]at the same time that tendency toward spasticity is addressed.Contractures can also be due toischemia, as inVolkmann's contracture.Excessivematrix metalloproteinaseandmyofibroblastaccumulation in the wound margins can result in contracture.

CrampFrom Wikipedia, the free encyclopediaAcrampis a sudden, severe, and involuntary muscle contraction or over-shortening; while generally temporary and non-damaging, they can cause mild-to-excruciatingpain, and aparalysis-like immobility of the affected muscle(s). Onset is usually sudden, and it resolves on its own over a period of several seconds, minutes, or hours. Cramps may occur in askeletal muscleorsmooth muscle. Skeletal muscle cramps may be caused by any combination of muscle fatigue, a lack ofelectrolytes(e.g.,low sodium,low potassium, orlow magnesium)[ Cramps of smooth muscle may be due tomenstruationorgastroenteritis.

Differential diagnosisCauses of cramping include[1]hyperflexion,hypoxia, exposure to large changes in temperature, dehydration, or low bloodsalt. Muscle cramps may also be a symptom or complication ofpregnancy,kidneydisease,thyroiddisease,hypokalemia,hypomagnesemiaorhypocalcemia(as conditions),restless-leg syndrome,varicose veins,[2]andmultiple sclerosis.[3]Electrolytedisturbance may cause cramping and muscletetany, particularlyhypokalaemiaandhypocalcaemia. This disturbance arises as the body loses large amounts ofinterstitial fluidthroughsweat. This interstitial fluid comprises mostly water and salt (sodium chloride). The loss of osmotically active particles outside ofmusclecells leads to a disturbance of theosmoticbalance and therefore shrinking of muscle cells, as these contain more osmotically active particles. This causes the calcium pump between the musclesarcoplasmandsarcoplasmic reticulumto short circuit; the calcium ions remain bound to thetroponin, continuingmuscle contraction.As early as 1965, researchers observed that leg cramps and restless-leg syndrome result from excessinsulin, sometimes calledhyperinsulinemia.[4]Hypoglycemiaandreactive hypoglycemiaare associated with excess insulin (or insufficientglucagon), and avoidance of lowbloodglucoseconcentrationmay help to avoid cramps.Smooth muscle crampsSmooth musclecontractions may be symptomatic ofendometriosisor other health problems. Menstrual cramps may also occur both before and during amenstrual cycle.Skeletal muscle crampsSee also:Exercise-associated muscle crampsSkeletal musclescan be voluntarily controlled, under normal circumstances. Skeletal muscles that cramp the most often are thecalves,thighs, andarches of the foot, and are sometimes called a "Charley horse" or a "corkie". Such cramping is associated with strenuous physical activity and can be intensely painful; however, they can even occur while inactive/relaxed. Around 40% of people who experience skeletal cramps are likely to endure extreme muscle pain, and may be unable to use the entire limb that contains the "locked-up" muscle group. It may take up to seven days for the muscle to return to a pain-free state.Nocturnal leg crampsSee also:Charley horseNocturnalleg cramps are involuntary muscle contractions that occur in thecalves,solesof the feet, or other muscles in the body during the night or (less commonly) while resting.The duration of nocturnal leg cramps is variable with cramps lasting anywhere from a few seconds to several minutes. Muscle soreness may remain after the cramp itself ends. These cramps are more common in older people.[5]They happen quite frequently in teenagers and in some people while exercising at night. The precise cause of these cramps is unclear. Potential contributing factors includedehydration, low levels of certain minerals (magnesium,potassium,calcium, andsodium), and reduced blood flow through muscles attendant in prolonged sitting or lying down. Nocturnal leg cramps (almost exclusively calf cramps) are considered 'normal' during the late stages of pregnancy. They can, however, vary in intensity from mild to extremely painful.A lactic acid buildup around muscles can trigger cramps; however, these happen during anaerobic respiration when a person is exercising or engaging in an activity where the heart beat speeds up. Medical conditions associated with leg cramps are cardiovascular disease, cirrhosis, pregnancy, and lumbar canal stenosis.Various medications may cause nocturnal leg cramps:[6] Diuretics, especially potassium sparing Long actingadrenergic beta-agonists(LABAs) Hydroxymethylglutaryl-coenzyme A reductase inhibitors (HMG-CoA inhibitors orstatins)Besides being painful, a nocturnal leg cramp can cause muchdistressandanxiety.[7]Gentlestretchingandmassage, putting some pressure on the affected leg by walking or standing, or taking a warm bath or shower may help to end the cramp.[8]If the cramp is in the calf muscle, pulling the big toe gently backwards will stretch the muscle and, in some cases, cause almost immediate relief.

Iatrogenic causesStatinsmay sometimes causemyalgiaand cramps among other possible side effects. Raloxifene (Evista) is a medication associated with a high incidence of leg cramps. Additional factors, which increase the probability for these side effects, are physical exercise, age, female gender, history of cramps, andhypothyroidism. Up to 80% of athletes using statins suffer significant adverse muscular effects, including cramps;[9]the rate appears to be approximately 1025% in a typical statin-using population.[10][11]In some cases, adverse effects disappear after switching to a different statin; however, they should not be ignored if they persist, as they can, in rare cases, develop into more serious problems. Coenzyme Q10 supplementation can be helpful to avoid some statin-related adverse effects, but currently there is not enough evidence to prove the effectiveness in avoiding myopathy or myalgia.PathophysiologyMain article:Muscle contractionSkeletal muscles work asantagonistic pairs. Contracting one skeletal muscle requires the relaxation of the opposing muscle in the pair. Cramps can occur when muscles are unable to relax properly due tomyosinfibers not fully detaching fromactinfilaments. In skeletal muscle,adenosine triphosphate(ATP) must attach to the myosin heads for them to disassociate from the actin and allow relaxation the absence of ATP in sufficient quantities means that the myosin heads remains attached to actin. An attempt to force a muscle cramped in this way to extend (by contracting the opposing muscle) can tear muscle tissue and worsen the pain. The muscle must be allowed to recover (resynthesize ATP), before the myosin fibres can detach and allow the muscle to relax.TreatmentStretching, massage and drinking plenty of fluid, such as water, may be helpful in treating simple muscle cramps.[13]With exertional heat cramps due toelectrolyte abnormalities(primarily sodium loss and not calcium, magnesium, and potassium) appropriate fluids and sufficient salt improves symptoms.[14]

MedicationQuinineis likely to be effective, however, due to side effects its use should only be considered if other treatments have failed.[15]Vitamin B complex,naftidrofuryl,lidocaine, and calcium channel blockersmay be effective for muscle cramps.[15]Research has also shown that pickle juice can be an effective remedy based on its high sodium and electrolyte content.[16]Cyclobenzaprine (Flexoril) has proven effective in preventing muscle cramps, although data suggests that effectiveness decreases when taken for more than several weeks.PreventionAdequate conditioning, stretching, mental preparation, and adequate fluid/electrolyte balance are likely helpful in preventing muscle cramps.

Cricopharyngeal spasmCricopharyngeal spasmsoccur in thecricopharyngeus muscleof thepharynx. These spasms are frequently misunderstood by the patient to becancerdue to the 'lump in the throat' feeling (Globus pharyngis) that is symptomatic of this syndrome. In practice, real lumps in the throat, such as a cancer, are generally not felt until they impede ingestion of foodThis is one of the reasons that a cancer can get so big before it is discovered. However, a cricopharyngeal spasm is a harmless, if uncomfortable, PhysiologyThere are twosphinctersin theoesophagus. They are normally contracted and they relax when you swallow so that food can pass through them going to thestomach. They then squeeze closed again to prevent regurgitation of the stomach contents. If this normal contraction becomes aspasm, these symptoms start.[1]Symptoms Sensation of a 'lump' in the back of the throat Throat feels swollen Discomfort - Lump can often feel quite big and pain is occasional Symptoms normally worse in the evening Stressaggravates the symptoms Saliva is difficult to swallow, yet food is easy to swallow - eating, in fact, often makes the tightness go away for a time 'Lump' sensation comes and goes from day to day Symptoms can persist for very long periods, often several months. The symptoms can be mimicked by pushing on the cartilage in the neck, just below the Adam's appleCausesStress and Anxiety. Other causes are not yet clear. In some cases, eating certain foods may bring on acute spasms, in susceptible individuals. Peanuts, pumpkin seeds and other nuts may trigger these spasms.

CuresNo real 'cure' exists, the sufferer must simply wait for it to fix itself. A number of treatments will make it much less noticeable; Muscle Relaxants Lorazepam(Ativan),diazepam(Valium) and otherbenzodiazepinesrelax the smooth muscle in the throat, slowing or halting contractions. In some people, benzodiazepines may have addictive properties. Reduce Stress Highstresslevels make thesespasmsmore noticeable It is advisable to take note of when your symptoms are at their worst Warm Fluids Hot fluids may be helpful for some people cricopharyngeal spasm (or other esophageal disorders)

Diastasis rectiFrom Wikipedia, the free encyclopediaDiastasis recti(also known asabdominal separation) is commonly defined as a gap of roughly 2.7 cm or greater between the two sides of therectus abdominis muscle.[1]This condition has no associated morbidity or mortality.[2]The distance between the right and leftrectus abdominismuscles is created by the stretching of the linea alba, a connective collagen sheath created by the aponeurosis insertions of the transverse abdominis, internal oblique, and external oblique.[3]Diastasis of this muscle occurs principally in two populations:newbornsandpregnant women. It is also known to occur in men. In the newborn, the rectus abdominis is not fully developed and may not be sealed together at midline. Diastasis recti is more common inprematureandblacknewborns. In pregnant orpostpartumwomen, the condition is caused by the stretching of the rectus abdominis by the growing uterus. It is more common inmultiparouswomen due to repeated episodes of stretching. When the defect occurs during pregnancy, the uterus can sometimes be seen bulging through the abdominal wall beneath the skin. Women are more susceptible to develop diastasis recti when over the age of 35, high birth weight of child, multiple birth pregnancy, and multiple pregnancies. Additional causes can be attributed to excessive abdominal exercises after the first trimester of pregnancy.PresentationA diastasis recti may appear as a ridge running down the midline of the abdomen, anywhere from thexiphoid processto theumbilicus. It becomes more prominent with straining and may disappear when the abdominal muscles are relaxed. The medial borders of the right and left halves of the muscle may be palpated during contraction of the rectus abdominis.[5]The condition can be diagnosed by physical exam, and must be differentiated from anepigastric herniaorincisional hernia, if the patient has had abdominal surgery.[2]Hernias may be ruled out using ultrasound.In infants, they typically result from a minor defect of thelinea albabetween therectus abdominismuscles. This allows tissue from inside the abdomen to herniate anteriorly. On infants, this may manifest as an apparent 'bubble' under the skin of the belly between theumbilicusandxiphisternum(bottom of the breastbone).Examination is performed with the subject lying on their back, knees bent at 90 with feet flat, head slightly lifted placing chin on chest. With muscles tense, examiners then place fingers in the ridge that is presented. Measurement of the width of separation is determined by the number of fingertips that can fit within the space between the left and rightrectus abdominismuscles. Separation consisting of a width of 2 fingertips (approximately 1 1/2 centimeters) or more is the determining factor for diagnosing diastasis recti.[6]TreatmentNo treatment is necessary for women while they are still pregnant. In children, complications include development of anumbilicalor ventral hernia, which is rare and can be corrected with surgery.[7]Alerting a medical professional is important when an infant displays signs of vomiting, redness or pain in the abdominal area.Typically the separation of the abdominal muscles will lessen within the first 8 weeks after childbirth, however the connective tissue remains stretched for many postpartum women. The weakening of the abdominal muscles and the reduced force transmission from the stretched linea alba may also make it difficult to lift objects, and cause lower back pain. Additional complications can manifest in weakened pelvic alignment and altered posture.[6]PhysiotherapyA Systematic Review of the evidence found that exercise may or may not reduce the size of the gap in pregnant or postpartum women. The authors looked at 8 studies totaling 336 women and concluded, Due to the low number and quality of included articles, there is insufficient evidence to recommend that exercise may help to prevent or reduce DRAM.[1]ExercisesNevertheless, the following exercises are often recommended to help build abdominal strength, which may or may not help reduce the size of diastasis recti[8] Core contraction- In a seated position, place both hands on abdominal muscles. Take small controlled breaths. Slowly contract the abdominal muscles, pulling them straight back towards the spine. Hold the contraction for 30 seconds, while maintaining the controlled breathing. Complete 10 repetitions.[8] Seated squeeze- Again in a seated position, place one hand above the belly button, and the other below the belly button. With controlled breaths, with a mid-way starting point, pull the abdominals back toward the spine, hold for 2 seconds and return to the mid-way point. Complete 100 repetitions.[8] Head lift- In a lying down position, knees bent at 90 angle, feet flat, slowly lift the head, chin toward your chest, (concentrate on isolation of the abdominals to prevent hip-flexors from being engaged),[6]slowly contract abdominals toward floor, hold for two seconds, lower head to starting position for 2 seconds. Complete 10 repetitions.[8] Upright push-up- A standup pushup against the wall, with feet together arms-length away from wall, place hands flat against the wall, contract abdominal muscles toward spine, lean body towards wall, with elbows bent downward close to body, pull abdominal muscles in further, with controlled breathing. Release muscles as you push back to starting position. Complete 20 repetitions.[8] Squat against the wall- Also known as a seated squat, stand with back against the wall, feet out in front of body, slowly lower body to a seated position so knees are bent at a 90 angle, contracting abs toward spine as you raise body back to standing position. Optionally, this exercise can also be done using an exercise ball placed against the wall and your lower back. Complete 20 Repetitions.[8] Squat with squeeze- A variation to the "Squat against the wall" is to place a small resistance ball between the knees, and squeeze the ball as you lower your body to the seated position. Complete 20 repetitions.[8]It is also noted that incorrect exercises, including crunches can actually increase the distasis recti separation. All corrective exercises should be in the form of pulling in of the abdominal muscles rather than a pushing of them outwards. Consultation of a professional physiotherapist is recommended for correct exercise routines.[8]In addition to the above exercises, theTouro Collegestudy concluded the "quadruped" position yielded the most effective results.[6]A quadruped position is defined as "a human whose body weight is supported by both arms as well as both legs".[9]In this position, the subject would start with a flat back, then slowly tilt the head down, and arch the back, contracting the abdominal muscles towards the spine, holding this position for 5 seconds, then releasing back to starting position. Complete 2 sets of 10 repetitions.[6]SurgicalIn extreme cases, diastasis recti is corrected during thecosmetic surgeryprocedure known as anabdominoplastyby creating a plication or folding of the linea alba and suturing together. This creates a tighter abdominal wall.In adult females, a laparoscopic Venetian blind technique can be used for plication of the recti.

Distal spinal muscular atrophy type 2From Wikipedia, the free encyclopediaDistal spinal muscular atrophy type 2(DSMA2), also known asJerash type distal hereditary motor neuropathy(HMN-J) is a childhood-onset genetic disorder characterised by progressive muscle wasting affecting lower and subsequently upper limbs. The disorder has been described inArabinhabitants ofJerashregion inJordan.[1][2]The condition is linked to a geneticmutationin thelocus9p21.1p12 (chromosome 9) and is likely inherited in anautosomal recessivemanner.

Exercise therapy for idiopathic inflammatory myopathiesFrom Wikipedia, the free encyclopediaAlthough they vary in particulars,polymyositis,dermatomyositisandinclusion body myositisare idiopathic inflammatory myopathies (IIM)[1]primarily characterized by chronicinflammationof humanskeletal muscletissue[1]that ultimately causes thenecrosisof muscle cells. This degeneration leads to muscle tissue wasting, weakness and fatigue among other serious effects. Until recently, exercise has been avoided as a type of therapy, and even forbidden due to the risk of triggering or amplifying inflammation. However, several studies have been conducted to test this assumption and have shown thataerobic exerciseas well asresistance trainingcan maintain and even improve quality of life for IIM-affected individuals without increasedinflammatory response.Modes of exercise therapy: trialsWith the main goals of treatment being improved functionality and quality of life, exercise programs should focus on functional exercises (e.g. walking, walking up/down stairs, sit-to-stand), when applicable. Performing functional exercises increases (a) the efficiency of the exercise program and (b) the likelihood the improvements will be transferred to activities of daily living.[3]Isometric activityIn 1993,isometric exercisetraining was applied for four weeks resulting in isometric peak power at 60% of maximal voluntary contraction.[4]The increase in isometric power was later shown to have no significant effect on serumcreatine kinase(CK) after two weeks ofstrength training.[5]Aerobic activityA six-week training program in 1998 that included 30 minutes ofaerobic activitythree times per week set at 60% maximum heart rate (predicted by age) resulted in increasedVO2max(i.e. maximal oxygen consumption or aerobic capacity), diminished pain, reduced muscle impairment, and improved quality of life.[6]Weight bearing activityThe results produced by aerobic activity were repeated in 1999[7]where for 12 weeks, weight-bearing exercise was added for patients not exhibiting marked physical incapacity as measured by the Functional Index in Myositis.[2](see Functional Assessment section). Confirmed by MRI and muscle biopsy, both the 1998 and 1999 studies showed that there were no significant changes in levels ofcreatine kinaseandaldolase, and no increase in muscle inflammation. In 2001, 22 patients were placed on a three week physical therapy and exercise program, and found that creatine kinase levels actually dropped in 20 of the patients.[8]The longest study to date was a six-month exercise program demonstrating a significant improvement in exercise capacity, VO2,isokineticstrength, and the ability to perform daily tasks compared to controls.[6]Stretching and range of motion activityChest expansion and thoracic extension exercises may offer preventive support to those at risk ofrestrictive lung diseasethrough the effects of IIM, and patients with inclusion body myositis may also be able to prevent contracture and extend functional daily activities through stretching and range of motion exercises[9]MonitoringIt is important to recognize that all described exercise programs were conducted by physicians or physiotherapists during the stable phase of the disease (except Painelli[2]). Patients were monitored closely for indicators of deleterious effects, such as increases in serum creatine kinase, inflammation or weakness. Monitoring of this kind can only be done in conjunction with a medical team who is aware of the risks posed by increasedinflammatory responsein patients with IIM.Future researchThe pathophysiology of IIMs is not well understood. Muscle weakness can be caused by a single or combined effect on muscle tissue by inflammation, inflammatory infiltrates, muscle atrophy, metabolic abnormalities that indicate disordered energy metabolism,[1]and possibly neuropathy,[10]among others. Therefore physical exercise has the potential to cause harm.However, the results of these exercise studies, at minimum, show that exercise can attenuate muscle damage due to disease, inactivity and steroid use.[2]They reflect the benefit of exercise through the strengthening of complement (non-diseased) muscles, and should encourage further studies to confirm whether diseased muscle may experience regeneration. The definition of improvement must be established,[1]and reproducible longitudinal studies must be conducted to determine the efficacy of exercise as therapy for IIM.

Exercise-associated muscle crampsFrom Wikipedia, the free encyclopediaExercise-associated muscle cramps(EAMC) are defined ascramping(painful muscle spasms) during or immediately following exercise.[1][2][3]Muscle cramps during exercise are very common, even in elite athletes. EAMC are a common condition that occurs during or after exercise, often during endurance events such as a triathlon or marathon.[1][3]Although EAMC are extremely common among athletes, the cause is still not fully understood because muscle cramping can occur as a result of many underlying conditions. Elite athletes experience cramping due to paces at higher intensities.[2][3]The cause of exercise-associated muscle cramps is hypothesized to be due to altered neuromuscular control,dehydration, orelectrolytedepletion.Electrolyte depletion and dehydration theoryIt is widely believed that excessive sweating due to strenuous exercise can lead to muscle cramps. Deficiency of sodium and other electrolytes may lead to contracted interstitial fluid compartments, which may exacerbate the muscle cramping. According to this theory, the increased blood plasmaosmolalityfrom sweating sodium losses causes a fluid shift from the interstitial space to the intervascular space, which causes the interstitial fluid compartment to deform and contributes to muscle hyperexcitability and risk of spontaneous muscle activity.[1][2]Neuromuscular controlThe second hypothesis is altered neuromuscular control. In this hypothesis, it is suggested that cramping is due to altered neuromuscular activity. The proposed underlying cause of the altered neuromuscular control is due tofatigue.[2]There are several disturbances, at various levels of the central and peripheral nervous system, and the skeletal muscle that contribute to cramping. These disturbances can be described by a series of several key events. First and foremost, repetitive muscle exercise can lead to the development of fatigue due to one or more of the following: inadequate conditioning, hot and or humid environments, increased intensity, increased duration, and decreased supply of energy. Muscle fatigue itself causes increased excitatoryafferentactivity within themuscle spindlesand decreased inhibitory afferent activity within the Golgi tendon. The coupling of these events leads to altered neuromuscular control from the spinal cord. A cascade of events follow the altered neuromuscular control; this includes increased alpha-motor neuronactivity in the spinal cord, which overloads the lower motor neurons, and increased muscle cell membrane activity.[2]Thus, the resultant of this cascade is a muscle cramp.Treatment and preventionMedication has not been found to help reduce or prevent muscle cramping. To prevent or treat, athletes are recommended to stretch, stop movement and rest, massaging the area that is cramping, or drink fluids. Stretching helps to calm down spindles by lengthening the muscle fibers and increase firing duration to slow down the firing rate of the muscle.[1]Recommended fluids during cramping are water or fluids that are high in electrolytes to replenish the system with sodium.

Exertional rhabdomyolysisFrom Wikipedia, the free encyclopediaExertional rhabdomyolysis(ER) sometimes calledexercise-induced rhabdomyolysis is the breakdown ofmusclefrom extreme physical exertion. It is one of many types ofrhabdomyolysisthat can occur and because of this the exactprevalenceand incidence are unclear. Awareness of the issue is low among both athletes and coaches, raising awareness of thediseaseand its risk factors can help reduceincidence.CauseER is more likely to occur when strenuous exercise is performed under high temperatures and humidity.[1]Poorhydrationlevels before, during, and after strenuous bouts ofexercisehave also been reported to lead to ER.[2]This condition and its signs and symptoms are not well known amongst the sport and fitness community and because of this it is believed that the incidence is greater but highly underreported.[3]Risks that lead to ER include exercise in hot and humid conditions, improper hydration, inadequate recovery between bouts of exercise, intense physical training, and inadequate fitnesslevels for beginning high intensity workouts.[4]Dehydration is one of the biggest factors that can give almost immediate feedback from the body by producing very dark colored urine.[5]Mechanism of injuryAnatomyExertional rhabdomyolysis results from damage to the intercellular proteins inside thesarcolemma.Myosinandactinbreak down in thesarcomereswhenATPis no longer available due to injury to the sarcoplasmic reticulum.[6]Damage to the sarcolemma and sarcoplasmic reticulum from direct trauma or high force production causes a high influx of calcium into the muscle fibers increasing calcium permeability. Calcium ions build up in themitochondria, impairing cellular respiration.[7]The mitochondria are unable to produce enough ATP to power the cell properly. Reduction in ATP production impairs the cells ability to extract calcium from the muscle cell.The ion imbalance causes calcium -dependent enzymes to activate which break down muscle proteins even further.[8]High concentrations of calcium cause the muscle to contract in the muscle cells activate the which inhibits the muscles ability to relax due to increased muscle activation.The increase of sustained muscle contraction leads to oxygen and ATP depletion with prolonged exposure to calcium. The muscle cell membrane pump may become damaged allowing free form myoglobin to leak into the bloodstream.

PhysiologyRhabdomyolsis causes themyosinandactinto degenerate into smaller proteins that travel into the circulatory system. The body reacts by increasing intracellular swelling to the injured tissue to send repair cells to the area. This allowscreatine kinaseandmyoglobinto be flushed from the tissue where it travels in the blood until reaching the kidneys.[9]In addition to the proteins released large quantities of ions such as intracellular potassium, sodium, and chloride find their way into the circulatory system. Intracellular potassium ion has deleterious effects on the heart's ability to generate action potentials leading to cardiac arrhythmias.[10]Consequently, this can affect peripheral and central perfusion that can affect all major organ systems in the body.When the protein reaches the kidneys it causes a strain on the anatomical structures reducing its effectiveness as a filter for the body. The protein acts like a dam as it forms into tight aggregates when it enters the renal tubules.[11]In addition, the increased intracellularcalciumhas greater time to bind due to the blockage allowing for renal calculi to form.[12]As a result this causes urine output to decrease allowing for the uric acid to build up inside the organ. The increased acid concentration allows the iron from the aggregate protein to be released into the surrounding renal tissue.[13]Iron then strips away molecular bonds of the surrounding tissue which eventually will lead to renal failure Mechanical considerationMuscle degeneration from rhabdomyolysis destroys the myosin and actin filaments in the affected tissue. This initiates the body's natural reaction to increaseperfusionto the area allowing for an influx of specialized cells to repair the injury. However, the swelling increases the intracellular pressure beyond normal limits. As the pressure builds in the muscle tissue, the surrounding tissue is crushed against underlying tissue and bone.[14]This is known as compartment syndrome which leads to greater death of the surrounding muscle tissue around the injury.[15]As the muscle dies this will cause pain to radiate from the affected area into the compartmentalized tissue. A loss of range of motion from swelling will also be seen in the affected limb. Along with muscle strength weakness associated with the muscles involved from loss of filament interaction.Dehydrationis a common risk factor for exertional rhabdomyolsis because it causes a reduction of plasma volume during exertion. This leads to a reduction of blood flow through the vascular system which inhibits blood vessel constriction.[16]PreventionMilitary data suggestlowering the risk of exertional rhabdomyolysis can be obtained by engaging in prolonged lower intensityexercise, as opposed to high intensity exercise over a shorter time period. In all athletic programs, three features should be present; (1) emphasizing prolonged lower intensity exercise, as opposed to repetitive max intensity exercises. (2) Adequate rest periods and a highcarbohydratediet replenishglycogenstores. (3) Proper hydration will enhance renal clearance of myoglobin.[17]Also, exercise in above average temperature andhumiditycan increase risk for exertional rhabdomyolysis.[18]Exertional rhabdomyolysis can be avoided by gradually increasing intensity during new exercise regimens, properly hydrating,acclimatization, and avoidance of diuretics during times of strenuous activity.[19]SupplementationSodium bicarbonatesupplementation can reducemyoglobin, and prevent exertional rhabdomyolysis.[20]DiagnosisExertional rhabdomyolysis, the exercise-induced muscle breakdown that results in muscle pain/soreness, is commonly diagnosed using the urine myoglobin test accompanied by high levels ofcreatine kinase(CK).Myoglobinis the protein released into the bloodstream whenskeletal muscleis broken down. The urine test simply examines whether myoglobin is present or absent. When results are positive theurinenormally obtains a dark, brown color followed by serum CK level evaluation to determine the severity of muscle damage. Elevated levels of serum CK greater than 5,000 U/L that are not caused by myocardial infarction,brain injury, or disease generally indicate serious muscle damage confirming diagnosis of ER.[21]TreatmentAfter ER is diagnosed, treatment is applied to 1) avoid renal dysfunction and 2) alleviatesymptoms. This should be followed by recommendedrehabilitationprogram,exercise prescription(ExRx).Treatmentinvolves extensivehydrationnormally done through IV fluid replacement with administration of normal saline until CK levels reduce to a maximum of 1,000 U/L.[22]Proper treatment will ensure hydration and normalize muscle discomfort (pain), flu-like symptoms, CK levels, and myoglobin levels for patient to begin ExRx.Although sufficient evidence is currently lacking, supplementation with a combination of sodium bicarbonate and mannitol is commonly utilized to prevent renal failure in rhabdomyolysis patients. Sodium bicarbonate alkalizes urine to stop myoglobin from precipitating in renal tubules.Mannitolhas several effects including, vasodilatation of renal vasculature, osmotic diuresis, and free radical scavenging.[23]RecoveryBefore initiating any form of physical activity the individual must demonstrate a normal level of functioning with all previoussymptomsabsent. Physical activity should be supervised by a health care professional in case of a reoccurrence. However, in some low risk individuals supervision by a medical professional is not required as long as individual follows up with weekly check ups.[24]Proper hydration prior to performing physical activity and performingexercisein cool, dry environments may reduce the chances of developing a reoccurring episode of ER.[25]Lastly, it is imperative forurineand blood values to be monitored along with careful observation for redevelopment of any signs or symptoms.The recovery program focuses on progressively conditioning/reconditioning the individual and improvingfunctionalmobility. However, special considerations prior to participating in rehabilitation program include the individuals 1) extent of muscle injury, if any 2) level of fitness before incident and 3) weight training experience.[26]These special considerations collectively are a form of assessing the individuals capacity to perform physical activity, which is ultimately used to specify the ExRx design.CostsActual cost for this condition is unknown and also dependent of the level of the condition. In some cases ER can lead to acute renal failure and bring medical costs up due to the need forhemodialysisfor recovery/treatment.

Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva(FOP), sometimes referred to asStone Man Syndrome, is an extremely rare disease of the connective tissue. Amutationof the body's repair mechanism causes fibrous tissue (includingmuscle,tendon, andligament) to be ossifiedspontaneously or when damaged. In many cases, injuries can cause joints to become permanently frozen in place. Surgical removal of the extra bone growths has been shown to cause the body to "repair" the affected area with more bone.Signs and symptomsFor unknown reasons, children born with FOP have deformedbig toes, possibly missing a joint or simply presenting with a notable lump at the minor joint. The first "flare-up" that leads to the formation of FOP bones usually occurs before the age of 10. The bone growth progresses from the top downward, just as bones grow in fetuses. A child with FOP will typically develop bones starting at the neck, then on the shoulders, arms, chest area and finally on the feet.Specifically, FOP involvement is typically seen first in the dorsal, axial, cranial and proximal regions of the body. Later the disease progresses in the ventral, appendicular, caudal and distal regions of the body.[2]However, it does not necessarily occur in this order due to injury-caused flare-ups. Often, the tumor-like lumps that characterize the disease appear suddenly. This condition causes loss of mobility to affected joints, including inability to fully open the mouth limiting speech and eating. Extra bone formation around the rib cage restricts the expansion of lungs and diaphragm causing breathing complications.Since the disease is so rare, the symptoms are often misdiagnosed as cancer orfibrosis. This leadsphysiciansto orderbiopsies, which can actually exacerbate the growth of these lumps. However, those born with FOP tend to have malformed toes or thumbs which help distinguish this disorder from other skeletal problems.[3]CausesFOP is caused by anautosomaldominant alleleon chromosome 2q23-24.[4]The allele has variableexpressivity, but completepenetrance. Most cases are caused by spontaneous mutation in thegametes; most people with FOP cannot or choose not to have children. A similar but less catastrophic disease isfibrous dysplasia, which is caused by apost-zygotic mutation.A mutation in the geneACVR1(also known as activin-like kinase 2 [ALK-2]) is responsible for the disease.[5]ACVR1 encodesactivinreceptor type-1, aBMPtype-1 receptor. The mutation causes substitution ofcodon206 fromargininetohistidinein the ACVR1 protein. This substitution causes abnormal activation of ACVR1, leading to the transformation of connective tissue and muscle tissue into a secondary skeleton. This causesendothelial cellsto transform tomesenchymal stem cellsand then to bone.[7]GeneticsFOP or Stone Man Syndrome is an autosomal dominant disorder that affects individuals who are heterozygous with a homozygous recessive partner, therefore their children will have 50% chance of being affected. Two affected individuals can produce unaffected children. The phenotypes of those who are homozygous dominant have more severe effects compared to those with heterozygous phenotype.[8]The gene that causes ossification is normally deactivated after a fetus's bones are formed in the womb, but in patients with FOP, the gene keeps working. Aberrant bone formation in patients with FOP occurs when injured connective tissue or muscle cells at the sites of injury or growth incorrectly express an enzyme for bone repair duringapoptosis(self-regulated cell death), resulting in lymphocytes containing excessbone morphogenetic protein 4(BMP4) provided during the immune system response. The bone that results occurs independently of the normal skeleton, forming its own discrete skeletal elements. These elements, however, can fuse with normal skeletal bone.[9]Interestingly, the diaphragm, tongue, and extra-ocular muscles are spared in this process, as well as cardiac andsmooth muscle.[2]Since the incorrect enzyme remains unresolved within the immune response, the body continues providing the incorrect BMP4-containing lymphocytes. BMP4 is a product that contributes to the development of the skeleton in the normal embryo.[10]DNA sequencing electropherograms of a typical FOP patient can differ when being compared to two other patients. The cause of this mutation is in the ACVR1 gene. This gene provides instruction for a protein known as morphogenetic protein (BMP). This protein is responsible for growth and development of bone and muscles. Scientists and researchers theorize that a mutation in the ACVR1 changes the shape of the receptor and disrupts certain mechanisms that control the receptor's activity. There is a certain molecule, otherwise known as ligands, that binds at the site to cause this reaction to activate with which it forms a complex. Due to the mutation, however, the bind site is modified and no longer stops the reaction.[11]The end result is an overgrowth of bone and cartilage and fusion of joints.[12]This type of genetic disorder is so rare that only 1 in 2 million people worldwide acquire it. As it is such a rare disorder, only a few are reported at all. Most of the cases of FOP were results of a new gene mutation: these people had no history of this particular disorder in their family. There are some cases which have shown people inheriting the mutation from one affected parent.[13]DiagnosisOutbreaks may be measurable clinically by elevated levels ofalkaline phosphataseandbone-specific alkaline phosphatase.[14]TreatmentThere is no known cure for FOP. Attempts to surgically remove the bone result in more robust bone growth.[15]While underanesthesia, patients with FOP may face problems, which include difficulties withintubation,restrictive pulmonary disease, and changes in theelectrical conduction system of the heart.[16]Activities that increase the risk of falling should be avoided, as injuries from falling can provoke the growth of bone.[1]In 1999, scientists discovered thatsqualaminein sharks[17]might be useful in treating those suffering from FOP. Squalamine isantiangiogenicand can prevent the growth of blood vessels in cartilaginous tissue, thus preventing creation of bone in sharks. TheGenaera Corporationannounced a trial of squalamine in 2002[19][20]but terminated about 2007. (Note thatsqualeneis a different compound, also found in sharks, that has no such properties.) Clinical trials ofisotretinoin,etidronatewith oralcorticosteroids, andperhexilinemaleate have failed to demonstrate effectiveness, though the variable course of the disease and small numbers of patients leave some room for uncertainty.[14]In April 2013 theLa Jolla Pharmaceutical Companywas grantedorphan drugstatus for testing of 4-(6-(4-(piperazin-1-yl)phenyl_pyrazolo[1,5-a]pyrimidin-3-yl)quinoline hydrochloride for treatment of FOP.[21]Researchers believe that specifickinase inhibitorscan be developed that will block the aberrant ACVR1 activity, and are actively investigatingdorsomorphinandK02288aslead compoundswith the intention of developing effective therapies.For example, the more potent dorsomorphin derivative LDN-193189 reduced ossification in atransgenicmouse model, in which the engineering of adult ACVR1 activity created an inflammation-dependent ossification sensitive tocorticosteroidtreatment.[24]Another major direction in research is the development of therapeutics based on allele-specificRNA interferenceto block the aberrant gene from directing production of ACVR1. However, effective treatment by this means may require a better knowledge of what cell types are responsible for the disease, so that inhibitory RNA can be produced from them in the long term.[25]Although this disorder is currently incurable, understanding and researching the cause of bone formation in FOP could aid in the treatment of other bone disorders, especially common ones such as fractures, hip replacement surgery, and other heterotopic ossifications that occur in trauma or burn victims.[26]EpidemiologyA study has determined that it affects approximately 1 in every 2million people.[27]CasesSince the 1800s, there have been references in medicine describing people who apparently "turned to stone"; some of these cases may be attributable to FOP.The best known FOP case is that ofHarry Eastlack(19331973). His condition began to develop at the age of ten, and by the time of his death from pneumonia in November 1973, six days before his 40th birthday, his body had completely ossified, leaving him able to move only his lips.Shortly before Eastlack's death, he made it known that he wanted to donate his body to science, in the hope that in death, he would be able to help find a cure for this little-understood and particularly cruel disease. Pursuant to his wishes, his preserved skeleton is now kept at theMtter MuseuminPhiladelphia, and has proven to be an invaluable source of information in the study of FOP.There have approximately been 700 confirmed cases across the globe from an estimated 2500.

Glycogen storage disease type XIFrom Wikipedia, the free encyclopediaGlycogen storage disease type XIis a form ofglycogen storage disease.It is also known as "FanconiBickel syndrome", forGuido FanconiandHorst Bickel,who first described it in 1949.It is associated withGLUT2,[3][4]a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons,and enterocytes of the intestines, and enter the blood. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature.

Glycogen storage disease type XIFrom Wikipedia, the free encyclopediaGlycogen storage disease type XIis a form ofglycogen storage disease.It is also known as "FanconiBickel syndrome", forGuido FanconiandHorst Bickel,who first described it in 1949.It is associated withGLUT2,[3][4]a glucose transport protein which, when functioning normally, allows glucose to exit several tissues, including the liver, nephrons,and enterocytes of the intestines, and enter the blood. The syndrome results in hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature.

Hereditary inclusion body myopathyHereditary inclusion body myopathies(HIBM) are aheterogeneousgroup of genetic disorders which have different symptoms. Generally, they are neuromuscular disorders characterized by muscle weakness developing in young adults.Hereditaryinclusion bodymyopathiescomprise bothautosomal recessiveandautosomal dominantmuscle disorders that have a variable expression (phenotype) in individual patients, but all share similar structural features in the muscles.HIBMs are a group of muscle wasting disorders, which are uncommon in the general world population. One autosomal recessive form of HIBM is known as IBM2, which is a common genetic disorder amongst people of Iranian Jewish descent. IBM2 has also been identified in other minorities throughout the world, including people of Asian (Japanese and others), European, and South American origin, as well as Muslim patients in the Middle Eastern, Palestinian, and Iranian origin. In Japan and many East Asian countries, this disorder is known as Distal Myopathy with Rimmed Vacuoles (DMRV).IBM2 causes progressive muscle weakness and wasting. Muscle wasting usually starts around the age of 20 30 years, although young onset at 17 and old onset at 52 has been recorded. As such, it affects the most productive times of our lives. It can progress to marked disability within 10 15 years, confining many patients to the wheelchair. The weakness and severity can vary from person to person. In some, weakness in the legs is noticed first. In few others, the hands are weakened more rapidly than the legs. Weakness is progressive, which means the muscle become weaker over time. IBM2 does not seem to affect the brain, internal organs or sensation. The quadriceps are relatively spared, and remain strong until the late stages of disease, which is the reason IBM2 is often referred to as Quadriceps Sparing Myopathy (QSM).ClassificationTypes of hereditary inclusion body myopathy:1. An autosomal dominant form (IBM1) where thequadricepsare one of the first muscles to become weak. Needham (2007)[1]lists IBM1 under OMIM 601419:[1]2. An autosomal recessive form (IBM2), common among people of Middle Eastern and Jewish heritage. This form mainly affects leg muscles, but with an unusual distribution that spares the quadriceps: a so-called quadriceps-sparing myopathy (QSM), the quadriceps are among the last muscles to become weak. See: OMIM # 600737.[2]Also see OMIM:605820(DMRV)[3].3. Nonaka distal myopathy with rimmed vacuoles, essentially a form of IBM2. See: OMIM # 605820:[4]4. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD), is linked to a slightly different gene, encoding valosin-containing protein (VCP) on chromosome 9 (located at 9p13-p12). See: OMIM # 167320[5]5. Inclusion body myopathy-3 (IBM3) is linked to mutations in a gene encoding myosin heavy chain II proteins on chromosome 17 (located at 17p13.1). See: OMIM # 605637[6]More types of HIMBs, linked to other genes, may be identified in the future.

Signs and symptomsSome early signs of HIBMs includes: Difficulty walking on heels, and difficulty running; Weak index finger; Frequent loss of balance. On muscle biopsy, the typical finding includes inclusion bodies, rimmed vacuoles and accumulation of aberrant proteins similar to those found in senile plaques ofAlzheimer's disease(amyloid beta, hyperphosphorylated tau, amongst others)ReferenceGeneticsThe different forms have different mutations and inheritance patterns. See the detailed OMIM descriptions for details (given above).MechanismsThe exact mechanisms of these diseases are not well understood.Hereditary inclusion body myopathy (IBM) constitutes a unique group of neuromuscular disorders characterized by adult-onset slowly progressive distal and proximal weakness, and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. Autosomal dominant (IMB3; OMIM 605637[7]) and autosomal recessive (IBM2; OMIM 600737[8]) forms have been described. The autosomal recessive form, first characterized in Jews of Persian descent, is a myopathy that affects mainly leg muscles, but with an unusual distribution that spares the quadriceps, so-called quadriceps-sparing myopathy (QSM). This disorder was subsequently found in other Middle Eastern families, the gene was mapped to 9p13-p12, and in 104 affected persons from 47 Middle Eastern families the same mutation in homozygous state was found in the GNE gene.[2]Affected individuals in families of other ethnic origins were found to be compound heterozygotes for other distinct mutations in the GNE gene. From OMIM 603824.[9]DiagnosisThe most useful information for accurate diagnosis is the symptoms and weakness pattern. If the quadriceps are spared but the hamstrings and iliopsoas are severely affected in a person between ages of 20 - 40, it is very likely HIBM will be at the top of the differential diagnosis. The doctor may order any or all of the following tests to ascertain if a patient has IBM2: Blood test for serum Creatine Kinase (CK or CPK); Nerve Conduction Study (NCS) / Electomyography (EMG); Muscle Biopsy; Magnetic Resonance Imaging (MRI) or Computer Tomography (CT) Scan to determine true sparing of quadriceps; Blood Test orBuccal swabfor genetic testing;TreatmentTreatment ispalliative, not curative.Treatment options for lower limb weakness such as foot drop can be through the use of Ankle Foot Orthoses (AFOs) which can be designed or selected by an Orthotist based upon clinical need for that patient. Sometimes tuning of rigid AFOs can enhance knee stability.There was an initial study done at theNational Human Genome Research InstituteinBethesda, MDtesting the efficacy of administeringsialic acidto patients with HIBM. Because the study cohort was so small, no significant results were determined. Anecdotal reports by patients suggested limb muscle strength was improved. Further, patients with HIBM have reported taking sialic acid on their own. A number of labs are studying sialic acid and its derivatives as a potential therapeutic for HIBM.

HypertoniaFrom Wikipedia, the free encyclopediaHypertoniais a term sometimes used synonymously withspasticityin the literature surrounding damage to thecentral nervous system, namely upper motor brain lesions.[1]Impaired ability of damagedmotor neuronsto regulate descending pathways gives rise to disorderedspinal reflexes, increased excitability ofmuscle spindles, and decreasedsynapticinhibition.[2]These consequences result in abnormally increasedmuscle toneof symptomatic muscles.[3]Some authors suggest that the current definition for spasticity, the velocity-dependent over-activity of thestretch reflex, is not sufficient as it fails to take into account patients exhibiting increased muscle tone in the absence of stretch reflex over-activity. They instead suggest that reversible hypertonia is more appropriate and represents a treatable condition that is responsive to various therapy modalities like drug and/or physical therapy.[4]Symptoms associated with central nervous systems disorders are classified into positive and negative categories. Positive symptoms include those that increase muscle activity through hyper-excitability of the stretch reflex (i.e., rigidity and spasticity) where negative symptoms include those of insufficient muscle activity (i.e.weakness) and reduced motor function.[5]Often the two classifications are thought to be separate entities of a disorder; however, some authors propose that they may be closely related.

PathophysiologyHypertonia is caused byupper motor neuron lesionswhich may result from injury, disease, or conditions that involve damage to the central nervous system. Motor neuronal hyperactivity occurs due to loss of inhibition of cells of theanterior horn of the spinal cordresulting fromreticulospinal tractdamage. Different patterns of muscle weakness or hyperactivity can occur based on the location of the lesion, causing a multitude of neurological symptoms, includingspasticity,rigidity, ordystonia.[7]Spastic hypertonia involves uncontrollablemuscle spasms, stiffening or straightening out of muscles, shock-like contractions of all or part of a group of muscles, and abnormalmuscle tone. It is seen in disorders such ascerebral palsy,stroke, andspinal cord injury. Rigidity is a severe state of hypertonia where muscle resistance occurs throughout the entire range of motion of the affected joint independent of velocity. It is frequently associated with lesions of thebasal ganglia. Individuals with rigidity present with stiffness, decreased range of motion and loss of motor control. Dystonic hypertonia refers to muscle resistance to passive stretching (in which a therapist gently stretches the inactive contracted muscle to a comfortable length at very low speeds of movement) and a tendency of a limb to return to a fixed involuntary (and sometimes abnormal) posture following movement.ManagementTherapeutic interventions are best individualized to particular patients.Basic principles of treatment for hypertonia are to 1) avoid noxious stimuli and 2) provide frequent range of motion exercise.Physical interventionsPhysiotherapyhas been shown to be effective in controlling hypertonia through the use of stretching aimed to reducemotor neuronexcitability.[8]The aim of each physical therapy session will be to inhibit excessive tone as far as possible, give the patient a sensation of normal position and movement, and to facilitate normal movement patterns. While static stretch has been the classical means to increase range of motion,PNF stretchinghas been used in many clinical settings to effectively reduce muscle spasticity.[9]Icing and othertopical anestheticsmay decrease the reflexive activity for short period of time in order to facilitate motor function. Inhibitory pressure (applying firm pressure over muscle tendon), promoting body heat retention, rhythmic rotation (slow repeated rotation of affected body part to stimulate relaxation)[10]have also been proposed as potential methods to decrease hypertonia. Aside from static stretch casting and splinting techniques are extremely valuable to extend joint range of motion lost to hypertonicity[11]A more unconventional method for limiting tone is to deploy quick repeated passive movements to an involved joint in cyclical fashion; this has also been demonstrated to show results on persons without physical disabilities.[8]For a more permanent state of improvement, exercise and patient education is imperative.[10]Isokinetic,[12][13][14][15]aerobic,[16][17][18]andstrength training[19][20][21][22]exercises should be performed as prescribed by a physiotherapist, and stressful situations that may cause increased tone should be minimized or avoided.[10]Pharmaceutical interventionsBaclofen,diazepamanddantroleneremain the three most commonly used pharmacologic agents in the treatment of spastic hypertonia. Baclofen is generally the drug of choice for spinal cord types of spasticity, while sodium dantrolene is the only agent which acts directly on muscle tissue.Tizanidineis also available.Phenytoinwithchlorpromazinemay be potentially useful if sedation does not limit their use.Ketazolam, not yet available in the United States, may be a significant addition to the pharmacologic armamentarium.Intrathecaladministration of antispastic medications allows for high concentrations of drug near the site of action, which limits side effects.

Macrophagic myofasciitisFrom Wikipedia, the free encyclopediaMacrophagic Myofasciitis, orMMF, is a rare muscle disease identified in 1993. The disease is characterized by microscopiclesionsfound in muscle biopsies that show infiltration of muscle tissue byPAS-positivemacrophages.[1]Specific causes of MMF are unknown. Intramuscular injections aluminium-containing vaccines have been implicated.[1]Many of those affected with the disease had previously been treated formalariawithchloroquineorhydroxychloroquinefor malaria.[2]Clinical symptoms include muscle pain, joint pain, muscle weakness, fatigue, fever, and muscle tenderness. A diagnosis can only be identified with anopen muscle biopsyof the vaccinated muscle.[3]Studies at the University of Paris have shown that MMF lesions result when the aluminum hydroxide adjuvant from a vaccine remains embedded in the tissue and causes a steady immune reaction.

Metabolic myopathyFrom Wikipedia, the free encyclopediaMetabolic myopathies aremyopathiesthat result from defects in biochemical metabolism that primarily affect muscle. They include:1-Glycogen storage diseases2-Lipid storage disorder3-Phosphocreatinestores disorder

Glycogen storage diseaseFrom Wikipedia, the free encyclopedia(Redirected fromGlycogen storage diseases)Glycogen storage disease(GSD, alsoglycogenosisanddextrinosis) is the result of defects in the processing ofglycogensynthesis or breakdown withinmuscles,liver, and other cell types.[1]GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by anyinborn error of metabolism(genetically defectiveenzymes) involved in these processes. In livestock, acquired GSD is caused byintoxicationwith thealkaloidcastanospermine.[2]Overall, according to a study inBritish Columbia, approximately 2.3 children per 100 000 births (1 in 43,000) have some form of glycogen storage disease.[3]In the United States, they are estimated to occur in 1 per 20,000-25,000 births.[4]A Dutch study estimated it to be 1 in 40,000.[5]TypesThere are eleven (11) distinct diseases that are commonly considered to be glycogen storage diseases (some previously thought to be distinct have been reclassified). (Althoughglycogen synthasedeficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.) GSD type VIII: In the past, considered a distinct condition.[6]Now classified with VI.[7]Has been described asX-linked recessive.[8] GSD type X: In the past, considered a distinct condition.[9][10]Now classified with VI.

Lipid storage disorderFrom Wikipedia, the free encyclopediaLipid storage disorders(orlipidoses) are a group of inheritedmetabolicdisorders in which harmful amounts oflipids(fats) accumulate in some of the bodyscellsand tissues.[1]People with these disorders either do not produce enough of one of theenzymesneeded to metabolize lipids or they produce enzymes that do not work properly. Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in thebrain,peripheral nervous system,liver,spleenandbone marrow.Lipidsare broadly defined as any fat-soluble (lipophilic), naturally occurring molecule, such as fats, oils, waxes, steroids (such ascholesterolandestrogen),sterolsand others. Lipids are important parts of the membranes found within and between each cell and in themyelin sheaththat coats and protects thenerves.Inside the cells,lysosomesconvert, or metabolize, lipids and proteins into smaller components to provide energy for the body.ClassificationDisorders that store thisintracellularmaterial are part of thelysosomal storage diseasesfamily of disorders.SphingolipidosesMain article:SphingolipidosisMany lipid storage disorder can be classified into the subgroup ofsphingolipidoses, as they relate tosphingolipidmetabolism. Members of this group includeNiemann-Pick disease,Fabry dise