Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. Disease data Klasyfikacja Malformation syndrome Synonimy CMT-deafness-intellectual disability syndrome Dziedziczna neuropatia ruchowa i czuciowa z głuchotą, niepełnosprawnością intelektualną oraz brakiem dużych włókien mielinowych Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers Kod ORPHA 90103 Kod OMIM 214370 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