Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Malformation syndrome Synonyms 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 ORPHA code 90103 OMIM code 214370 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