1 X-linked Charcot-Marie-Tooth disease

An X-linked dominant form of Charcot-Marie-Tooth Disease that is characterized by severely reduced motor nerve conduction velocities (NCV) (less than 38 m/s) and segmental DEMYELINATION and remyelination with onion bulb formations on nerve biopsy. Mutations in the GJB1 gene have been identified.

Also Known As:

Charcot-Marie-Tooth disease, X-linked, 1; CMTX 1; Charcot-Marie-Tooth Neuropathy, X-Linked, 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; Cmtx1; HMSN, X-linked; Hereditary motor and sensory neuropathy, X-linked

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Motor Neuropathy: 260
      - Charcot-Marie-Tooth Disease: 1018
        1 X-linked Charcot-Marie-Tooth disease: 39
- Neuromuscular Diseases: 2048
  - Peripheral Nervous System Diseases: 11768
    - Polyneuropathies: 5219
      - Hereditary Sensory and Motor Neuropathy: 260
        Charcot-Marie-Tooth Disease: 1018
        1 X-linked Charcot-Marie-Tooth disease: 39
- Nervous System Malformations: 36
  - Hereditary Sensory and Motor Neuropathy: 260
    - Charcot-Marie-Tooth Disease: 1018
      - 1 X-linked Charcot-Marie-Tooth disease: 39
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Nervous System Malformations: 36
    - Hereditary Sensory and Motor Neuropathy: 260
      - Charcot-Marie-Tooth Disease: 1018
        1 X-linked Charcot-Marie-Tooth disease: 39
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Motor Neuropathy: 260
      - Charcot-Marie-Tooth Disease: 1018
        1 X-linked Charcot-Marie-Tooth disease: 39

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