Distal hereditary motor neuropathy type 5

Orpha code: 139536OMIM code: 619112

Definition

A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.

Disease data
Classification

Disease

Synonyms
Distal HMN V
dHMN5
Dystalna HMN V
Dystalny rdzeniowy zanik mięśni typu 5
Dystalna dziedziczna neuropatia ruchowa typu V
Distal hereditary motor neuropathy type V
Distal spinal muscular atrophy type 5
dHMN5
ORPHA code
139536
OMIM code
619112
ICD10 code
G12.2
ICD11 code
8B61.4

No additional description.

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