Spinal Muscular Atrophy 2
Motor Neuron / ALS
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Overview
From WUSTL Neuromuscular●SMA 5q Clinical Onset: 1 year Weakness Proximal > Distal Symmetric Legs > Arms Motor functions: Sit but never stand or walk Hypotonia Muscle atrophy Tendon reflexes: Absent Tremor: Mild Skeletal: Small head circumference; Pes valgus Cognitive: Normal Progression: ?; May develop respiratory disorders Laboratory Serum CK: Normal Electrophysiology EMG: Fibrillations; Large amplitude action potentials NCV: Small amplitude CMAPs; Mild slowing; Sensory normal Muscle biopsy Grouped atrophy Type I muscle fiber predominance
External Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.