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Definition

A form of distal hereditary motor neuronopathy, 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. HMN5C is characterized by distal muscular atrophy primarily affecting the upper limbs. Lower limb involvement may occur at the same time or later. Clinical features are highly variable even within families, and include poor fine hand motor skills, difficulty walking, foot deformities, spasticity and hyperreflexia. Some HMN5C patients show axonal peripheral neuropathy and distal sensory impairment. HMN5C inheritance is autosomal dominant with incomplete penetrance.

Acronym

HMN5C

Synonyms

DHMN5C
Distal hereditary motor neuronopathy type VC
Distal spinal muscular atrophy type 5C
DSMA5C
Neuronopathy, distal hereditary motor, type VC
Spinal muscular atrophy, distal, type 5C

Keywords

Neurodegeneration
Neuropathy

 
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