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Definition

A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.

Acronym

HMN5A

Synonyms

dHMN5
DHMN5A
dHMN V
DHMN VA
Distal hereditary motor neuronopathy type VA
Distal hereditary motor neuropathy type V
Distal hereditary motor neuropathy type VA
DSMAV
DSMA-V
DSMAVA
HMN V
HMN VA
Spinal muscular atrophy distal type V
Spinal muscular atrophy distal type VA
Spinal muscular atrophy distal with upper limb predominance

Keywords

Neurodegeneration
Neuropathy

 
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