Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory. Disease data Klasyfikacja Disease Synonimy ARCMT2X ARCMT2X Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2 spowodowana SPG11 CMT2X Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation CMT2X Kod ORPHA 466775 Kod OMIM 616668 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