Autosomal dominant Charcot-Marie-Tooth disease type 2W

Orpha code: 488333OMIM code: 616625

Definicja

A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood.

Disease data
Klasyfikacja

Disease

Synonimy
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation
Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2 z powodu mutacji w HARS
CMT2W
Kod ORPHA
488333
Kod OMIM
616625
Kod ICD10
G60.0
Kod ICD11
-

No additional description.

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