Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
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.
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 — per MONDO