Also Known As
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndromehereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibershereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibresCharcot-Marie-tooth disease-deafness-intellectual disability syndromeCharcot-Marie-Tooth disease and deafnessdeafness with Charcot-Marie-Tooth diseaseneuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibersneuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibresneuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibersneuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibres
Definition
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.