Distal hereditary motor neuropathy type 7

Orpha code: 139589OMIM code: 607641

Definicja

A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.

Disease data
Klasyfikacja

Disease

Synonimy
Distal spinal muscular atrophy with vocal cord paralysis
dHMN7
Dystalny rdzeniowy zanik mięśni z porażeniem strun głosowych
dHMN7
Kod ORPHA
139589
Kod OMIM
607641
Kod ICD10
G12.2
Kod ICD11
8B61.4

No additional description.

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