Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Synonyms: CMT-deafness-intellectual disability syndrome | 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
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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