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Charcot-Marie-Tooth disease
rareAn inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.
- Identifiers
- MONDO:0015626 Orphanet:166
- Part of
- Hereditary peripheral neuropathy
- Also known as
- Charcot Marie Tooth disease · Charcot Marie Tooth muscular atrophy · Charcot-Marie-Tooth hereditary neuropathy · CMT · CMT/HMSN
Subtypes
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