Autosomal dominant Charcot-Marie-Tooth disease type 2Y

Orpha code: 435387OMIM code: 616687

Definition

A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.

Disease data
Classification

Disease

Synonyms
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
CMT2 spowodowana mutacją VCP
CMT2 due to VCP mutation
CMT2Y
ORPHA code
435387
OMIM code
616687
ICD10 code
G60.0
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl