Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

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.

Also known as: 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 deafness, intellectual disability and absent sensory large myelinated fibres, Charcot-Marie-tooth disease-deafness-intellectual disability syndrome, Charcot-Marie-Tooth disease and deafness, deafness with Charcot-Marie-Tooth disease, neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers, neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibres

1 clinical trial for this condition and its sub-types, 1 tagged with Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome itself.