Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation. Disease data Klasyfikacja Disease Synonimy DNAJB2-related CMT2 AR-CMT2T Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha typu 2T CMT2T Choroba Charcot-Marie-Tooth typu 2 związana z DNAJB2 Kod ORPHA 443950 Kod OMIM 614881 Kod ICD10 G60.0 Kod ICD11 - *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