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distal spinal muscular atrophy (distal hereditary motor neuronopathy)
heterogeneous group of neuromuscular disorders referred to as a 'neuronopathy' instead of a 'neuropathy'
Pathology:
- anterior horn cell degeneration
- primary pathologic process resides in the neuron cell body & not in the axons
Clinical manifestations:
- progressive distal motor weakness & muscular atrophy without sensory impairment
Specific
distal spinal muscular atrophy type 2A; distal hereditary motor neuropathy type 2A; spinal Charcot-Marie-Tooth disease 2A
distal spinal muscular atrophy type 4
distal spinal muscular atrophy type 5 (DSMA5)
General
spinal muscular atrophy (SMA)
References
UniProt :accession O94827