SPINAL MUSCULAR SPINAL MUSCULAR ATROPHYATROPHY

General DataGeneral Data

IDT4 month-oldFemaleRoman CatholicQuezon City

Chief ComplaintChief ComplaintDecreased muscle tone

History of Present IllnessHistory of Present Illness

1 ½ months old

2months old

(+) decreased motor activity(+) decreased muscle tone

(+) floppy(+) gasping while feeding(+) decreased frequency of bowel movement

4 months old(-) head controlAdvised consult with a neurologist: admission for work-up

ADMISSION

Past Medical HistoryPast Medical History

May 2013 on the 4th day of lifeReadmitted for:

Neonatal sepsis; Breastfeeding

Cefotaxime & ampicillin; phototherapy

(admitted for 3 days)

Immunization HistoryImmunization HistoryBCG x 1 doseHepatitis B x 2 dosesDPT x 3 dosesOPV x 3 dosesHiB x 3 doses

Birth HistoryBirth History

Born full term via Normal Cesarean Section to a 24 year-old G1P1 (1001) APGAR score (9,9) fetomaternal complications

Unremarkable course at the NICU

Feeding HistoryFeeding HistoryBreastfed exclusively

Family HistoryFamily History

(+) Diabetes Mellitus(-) dystonia, paralysis etc…(-) Asthma(-) Hypertension(-) Thyroid disorder(-) Allergies(-) Cancer

Personal and Social Personal and Social HistoryHistoryLives with both parents in

Quezon city

Review of SystemsReview of Systems(-) fever(-) weight loss(-) dyspnea, cough and colds

Physical ExaminationPhysical ExaminationAwake, alert , not in

cardiorespiratory distress CR: 92 RR: 42 T: 36.5 CWeight: 6.3 kgPink palpebral conjunctivae,

anicteric scleraeNon-hyperemic tonsils, no

tonsillopharyngeal congestion, no cervical lymphadenopathy, left, clear breath sounds, no retractions

Physical ExaminationPhysical ExaminationRegular cardiac rhythm, no

murmurSoft abdomen, non-tender,

normoactive bowel sounds, no palpable masses, no hepatosplenomegaly

Full and equal pulses, no edema, no cyanosis

Neurologic ExaminationNeurologic ExaminationGCS 15, awake, alertCranial nerves: I- not assessedII- pupils 3-4 mm ERTL, visual acuity grossly intactIII, IV, VI-EOM’s full and equal, (-) nystagmus VII- no facial asymmetryVIII- gross hearing intactIX, X- (+)gag reflexXI- good shoulder toneXII- tongue midlineNo nuchal rigidityDTR on all extremities: negativeMMT 0/5 on all extremities

;

Salient featuresSalient features4 month-old femaleDecreased motor activityDecreased muscle toneNo head controlNo vomiting No loose stoolsDecreased feeding with intemittencyNeonatal sepsis and

hyperbilirubinemia

Admitting ImpressionAdmitting Impression

t/c Floppy baby syndrome

Ilagay mo na lang na px was basically worked up with the ff results….tapos slide ng results. Explain also kung para san yung mga tests na ginawa

No problems related to sma was encountered during the course of admission.

Results explained to the family. Prognostication done.

PlanPlanDiagnostics:

◦Laboratory exams: CBC , SGPT, Na , K , CPK-MM

◦Muscle ultrasound◦EMG-NCV◦Cranial ultrasound

9/22/13

Total Ca 2.94 L

CK-total 302 H

CK-MB 67 H

CK-MM 235 H

Na 141

K 6.3 H

Hgb Hct WBC Neutro

Lymp

Mono Eos Plt

9/22 122 37 13.90 21 70 03 06 615

Cranial Ultrasound (9/2313):unremarkable study

Ultrasound of bilateral upper and lower extremities (9/23/13): generalized muscle atrophy

EMG-NCV: Motor denervation of limbs. Axonal dysfunction. Findings compatible with predominantly motor neuropathy or a lesion involving the motor neuron (neuropathy)

11stst Hospital Day Hospital Day

2nd2nd Hospital Day Hospital Day

EMG-NCV: Motor denervation of limbs. Axonal dysfunction. Findings compatible with predominantly motor neuropathy or a lesion involving the motor neuron (neuropathy)

2nd2nd Hospital Day Hospital Day

Paayos nung discussion. Keypoints lang. masyadong maraming words

SPINAL MUSCULAR SPINAL MUSCULAR ATROPHYATROPHYAutosomal recessive disorders

characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem

different forms of 5q-SMA are caused by biallelic deletions or mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5q13.2

SPINAL MUSCULAR SPINAL MUSCULAR ATROPHYATROPHY SMA1: Werdnig-Hoffmann disease or Infantile spinal

muscular atrophy◦ the most common and severe type◦ typically presents in the neonatal period◦ symptoms progress rapidly, and the majority of infants

die before one year of age from respiratory failure SMA 2 (intermediate form): 3 and 15 months SMA 3 (mild form; Kugelberg-Welander disease):

after 1 year◦ Although the muscle weakness affected motor function,

walking, transfer from lying or sitting to the standing position, and stair-climbing were possible in some children. The outcome depends primarily upon the severity of muscle weakness at presentation rather than the age of onset, but earlier onset tends to correlate with greater weakness

SMA 4 (Adult onset)of SMA (type 4) 2nd or 3rd decade of life

ManifestationsManifestations diffuse symmetric proximal muscle weakness LE >UE Absent or markedly decreased DTR SMA 1: severe symmetric flaccid paralysis and are

unable to sit unsupported. an alert expression, furrowed brow, and normal eye

movements weak cry, poor suck and swallow reflexes, pooling of

secretions, aspiration, and fasciculations of the tongue (bulbar muscles).

All SMA types are associated with a restrictive, progressive respiratory insufficiency

In SMA 1, respiratory muscle weakness leads to progressive respiratory failure. The intercostal muscles typically are more affected than the diaphragm, resulting in paradoxical breathing and the development of a characteristic bell-shaped chest deformity. Cardiac muscle is not affected.

DiagnosisDiagnosis Molecular gene testing Electromyography — abnormal spontaneous activity with

fibrillations and positive sharp waves The mean duration and amplitude of motor unit action

potentials are increased, and many are polyphasic. Nerve conduction velocities are normal or slightly decreased, and sensory nerve action potentials are normal.

Serum creatine kinase concentration typically is normal or slightly elevated, although in rare cases it can be moderately elevated.

Muscle biopsy — Muscle biopsy reveals large groups of circular atrophic type 1 and 2 muscle fibers interspersed among fascicles of hypertrophied type 1 fibers

The enlarged fibers have been reinnervated by the sprouting of surviving nerves and are 3-4x larger than normal.

Histologic diagnosis may be more difficult to make in newborns because only widespread atrophy of muscle fibers may be seen. A later repeat biopsy is needed to demonstrate the mixture of hypertrophied and atrophic fibers seen after reinnervation occurs.

ManagementManagementTreatment for SMA is supportive and

directed at providing nutrition and respiratory assistance as needed, and treating or preventing complications of weakness.

Spinal bracing to delay the development of progressive scoliosis that is caused by muscle weakness

Secretion mobilization and clearance techniques involve manual or mechanical chest physiotherapy with postural drainage, and manual cough assistance and/or use of a mechanical insufflation/exsufflation device

Tracheostomy

Thank youThank you