Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease

Definition

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.

Also known as Charcot Marie Tooth muscular atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth hereditary neuropathy, CMT, CMT/HMSN, peroneal muscular atrophy — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Musculature Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculature Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Peripheral nervous system Disease Has Primary Anatomic Site NCIT · CC BY 4.0