4 steps simple approach myopathy

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NNC CMU The Northern Neuroscience Centre Chiang Mai University 4 simple steps Approach Myopathy 10 March 2016

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Page 1: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre

Chiang Mai University

4 simple stepsApproach Myopathy

10 March 2016

Page 2: 4 Steps simple approach myopathy

Neu

rom

uscu

lar p

robl

em

CNS

Sensory with/without

motor

Nerve

Motor

Muscle

Constant weakness

Proximalarms and legs

Most of Myopathies

Distal armprox legs

H. Myotonic dystA. Inclusion body

myositis

Prox armsDistal legs

H. FSHD

Distal arms,legs H. Nonaka,Miyoshi

StiffnessH. Myopathy w

MyotoniaA. Hypothyroid

Episodic weakness

Exercise triggered

H. Metabolic MitochondrialMyopathy

Unrelated or delayed

H.HypoKPP

Oculobulbar

Ptosis with Ophalmoplegia

H. OPMDCPEO

Ptosis without H. Myotonic dyst

bulbar firstH. OPMD

LGMD 1A

Infant onset H. Congenital

NMJ

Nerve

Motor neuron

Page 3: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Overview• Step 1 : Symptom definition

• Step2 : Conceptual classification

• Step 3 : Pattern recognition

• Step4 : Investigation

Page 4: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Step 1: Symptom definition

Negative symptom

• Weakness• Proximal• Distal• Bulbar

• Exercise intolerant/fatigue• Muscle atrophy

Page 5: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Positive symptom:

• Myalgia• Muscle pain without contraction

• Cramp • Episodic involuntary muscle contraction

usually painful

• Myotonia• Impaired relaxation after contraction• Repeated -> improve (warm up phenomenon)

Page 6: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Myopathy with myalgia• Note : Not specific with inflammatory

• Infalmatory myopathies Dermatomyositis,Polymyositis

• Infectious myositis

• Mitochondrial myopathies

• Myeoadenylate deaminaase deficienccy

• Eosinophili-myalgia syndrome

• Tubular aggregate myopathy

• Becker dystrophy varient

Page 7: 4 Steps simple approach myopathy
Page 8: 4 Steps simple approach myopathy
Page 9: 4 Steps simple approach myopathy

Myotonia in simple physiology

Muscle membrane hyperexcitability(repetitive repolarization cause delayed depolarization) 1. Na channel gain function2. Cl channel loss function

Berchtold MW et al.Physiol Rev 2000(80) 1215–1265

Page 10: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Step 2: Conceptual classification

Myopathy

Hereditary Acquire

1. Structure2. Channel

3.Metabolism

Page 11: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Characters of hereditary myopathy

1. Slow progression (onset might be in adult)

2. Myotonia

3. Family history

Page 12: 4 Steps simple approach myopathy

Her

edita

ry m

yopa

thy

Muscular dystrophy

Congenital myopathy

Channelopathies

Metabolic myopathies

Mitochondrial myopathy

Myopathy with myotonia

• Glucose• Lipid

• Myotonic dystrophy ( Cl channel)• Duchene and Becker• Emery-Drefuss• Facioscapulo-humeral• Limb-girdle • Oculopaharyngeal

• myotonia congenital (Cl channel)• Paramyotonia congenital (Na channel)• HyperKPP (Na channel)• HypoKPP (Ca channel)• Anderson Tawil (K channel)

Page 13: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Step 3 : Pattern recognition 1. Proximal arms and legs = Limb Girdle

2. Proximal arms and distal legs = Scapuloperoneal

3. Distal arms and proximal legs

4. Ptosis with or without ophthalmoparesis

5. Bulbar

6. Stiffness

7, 8, 9, 10

Carlyane E et al. Continuum 2013;19(6) 1674-97

Page 14: 4 Steps simple approach myopathy

• Ptosis with Ophtalmoplegia

• OPMD : oculopharyngeal muscular dystrophy

• OPDM : coulopharyngodistal myopathy

• CPEO & Mitochondrial myopathy group

• Ptosis without

• Myotonic dystrophy

• Congential myopathy

• myofibrillar myopathy

Ptosis with and without opthalmoplegia

Page 15: 4 Steps simple approach myopathy

Neu

rom

uscu

lar p

robl

em

CNS

Sensory with/without

motor

Nerve

Motor

Muscle

Constant weakness

Proximalarms and legs

Most of Myopathies

Distal armprox legs

H. Myotonic dystA. Inclusion body

myositis

Prox armsDistal legs

H. FSHD

Distal arms,legs H. Nonaka,Miyoshi

StiffnessH. Myopathy w

MyotoniaA. Hypothyroid

Episodic weakness

Exercise triggered

H. Metabolic MitochondrialMyopathy

Unrelated or delayed

H.HypoKPP

Oculobulbar

Ptosis with Ophalmoplegia

H. OPMDCPEO

Ptosis without H. Myotonic dyst

bulbar firstH. OPMD

LGMD 1A

Infant onset H. Congenital

NMJ

Nerve

Motor neuron

Page 16: 4 Steps simple approach myopathy

Distribution of weakness

10’s 30’s 50’sAge at the onset of symptom

Page 17: 4 Steps simple approach myopathy

DDx• Hereditary

• Congenital myopathy

• Channelopathies

• Myopathy with myotonia

• Metabolic myopathy

• Mitochondrial myopathy

• Muscular dystrophy

• Duchene

• OPMD

• LGMD

Page 18: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

DDx• Acquired

• Inflammatory

• Infection

• Drug/toxin

• Endocrine/nutrition

• Overused trauma

Page 19: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Step 4: Investigation• Total CK

• EMG

• Muscle biopsy

• Genetic testing

Page 20: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre

Chiang Mai University

Muscle biopsy

Page 21: 4 Steps simple approach myopathy

• Rhabdomyolysis

• Alcohol :acute

• Cholesterol lowering drugs

• Toluene

• Drug abuse : amphetamine, heroine, cocain

• Inflammatory

• Levodopa

• Cimetidine

• D-penicilamine

• Procainamide

Drugs induce myopathies

that raise CK

Page 22: 4 Steps simple approach myopathy

• Myosin loss

• Steroid ( involve type II muscle-> EMG also normal)

• Alcohol :chronic

• Nondepolarizing neuromuscular blocking

ie. Tubercularin

Drugs induce myopathies

that NOT raise CK

Page 23: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Alcoholic myopathy• Acute

–Most common cause of nontraumaticrhabdomyolysis

–Patho: muscle fiber necrosis–Days after bing drinking –Precipitate by hypoPO4 ie

refeeding syndrome–Recovery days to wks after

cessation of alc intake

• Chronic –Corelate with alcoholic

cardiomyopathy–Patho: muscle fiber type II

atrophy –Relate to high cumulative

lifetime dose–Recovery 3-18 mos after

cessation of alc intake

Page 24: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Limb girdle muscular dystrophy : LGMD• Definiton: genetic muscle disease with postnatal onset

of progressive weakness affecting proximal upper and lower extremities

• Defect of gene required for muscle function

• AD form : 1A, 1B…1H

• AR form : 2A, 2B…2W

Page 25: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Page 26: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Take home messageStep 1 : Negative and positive symptoms

Step 2 : Conceptual classificationHereditary vs Acquired

Step 3 : Pattern recognition approachDistribution Proximal, distal, oculobulbarPogression : Episodic, acute, chronic, nonprogress

Step 4 : InvestigationSerum CK , EMG, Muscle biopsy

Page 27: 4 Steps simple approach myopathy

NNC CMUThe Northern Neuroscience Centre Chiang Mai University

Reference• ตําราประสาทวทิยาคลนิิก . สมาคมประสาท

วทิยาแห่งประเทศไทย 2557

• Carlyane E et al. Continuum 2013;19(6) 1674-97