Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Disease Synonyms 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 ORPHA code 488333 OMIM code 616625 ICD10 code G60.0 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl