distal spinal muscular atrophy (distal hereditary motor neuronopathy)

Introduction

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

More general terms

• spinal muscular atrophy (SMA)

More specific terms

• 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)