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Charcot-Marie-Tooth disease

rare

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.

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

All diseases Rare only
Disease Subtypes
Charcot-Marie-Tooth disease type 2 38
Intermediate Charcot-Marie-Tooth disease 21
Charcot-Marie-Tooth disease type 4 12
Charcot-Marie-Tooth disease type 1 6
Charcot-Marie-Tooth disease type X 6
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease with ptosis and parkinsonism
Charcot-Marie-Tooth disease, Guadalajara neuronal type
Charcot-Marie-Tooth disease, axonal, IIa 2II
Charcot-Marie-Tooth disease, axonal, Type 2HH
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
Charcot-Marie-Tooth disease, axonal, type 2FF
Charcot-Marie-Tooth disease, axonal, type 2KK
Charcot-Marie-Tooth disease, axonal, type 2LL
Charcot-Marie-Tooth disease, demyelinating, IIA 1H
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Charcot-Marie-Tooth disease, demyelinating, type 1G
Charcot-Marie-Tooth disease, demyelinating, type 1J
Charcot-Marie-tooth disease, axonal, type 2JJ
Charcot-marie-tooth disease, axonal, type 2MM
Demyelinating hereditary motor and sensory neuropathy
Neuronopathy, distal hereditary motor, autosomal dominant 1
Neuropathy, hereditary motor and sensory, type 6A

Rare disease

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