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Charcot-Marie-Tooth disease

MONDO:0015626

Also known as: hereditary motor and sensory neuropathy, hereditary sensorimotor neuropathy, CMT, CMT/HMSN, Charcot Marie Tooth muscular atrophy

MONDO:
MONDO:0015626
Orphanet:
166
Rare disease81 associated genes

Description

An 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.

Associated genes

+71 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.