Charcot-Marie-Tooth Disease

A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)

Also Known As:

Peroneal Muscular Atrophy; Roussy Levy Syndrome; Syndrome, Roussy-Levy; Charcot-Marie Disease; Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1A; Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1B; Charcot-Marie-Tooth Disease, Demyelinating, Type 1A; Charcot-Marie-Tooth Disease, Demyelinating, Type 1B; Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy; Charcot-Marie-Tooth Disease, Type 1A; Charcot-Marie-Tooth Disease, Type 1B; Charcot-Marie-Tooth Disease, Type I; Charcot-Marie-Tooth Disease, Type IA; Charcot-Marie-Tooth Disease, Type IB; Charcot-Marie-Tooth Disease, Type II; Charcot-Marie-Tooth Hereditary Neuropathy; Charcot-Marie-Tooth Neuropathy, Type 1A; Charcot-Marie-Tooth Neuropathy, Type 1B; Charcot-Marie-Tooth Syndrome; HMN Distal Type I; HMSN 1A; HMSN 1B; HMSN I; HMSN IA; HMSN IB; HMSN II; HMSN1A; HMSN1B; Hereditary Areflexic Dystasia; Hereditary Motor And Sensory Neuropathy IB; Hereditary Motor and Sensory Neuropathy 1A; Hereditary Motor and Sensory Neuropathy 1B; Hereditary Motor and Sensory Neuropathy IA; Hereditary Type I Motor and Sensory Neuropathy; Neuropathy, Type I Hereditary Motor and Sensory; Neuropathy, Type II Hereditary Motor and Sensory; Roussy Levy Hereditary Areflexic Dystasia; Roussy-Levy Disease; Roussy-Levy Hereditary Areflexic Dystasia; Areflexic Dystasia, Hereditary; Areflexic Dystasias, Hereditary; Atrophies, Peroneal Muscular; Atrophy, Peroneal Muscular; Charcot Marie Disease; Charcot Marie Tooth Disease; Charcot Marie Tooth Disease, Type 1A; Charcot Marie Tooth Disease, Type 1B; Charcot Marie Tooth Disease, Type I; Charcot Marie Tooth Disease, Type IA; Charcot Marie Tooth Disease, Type IB; Charcot Marie Tooth Disease, Type II; Charcot Marie Tooth Hereditary Neuropathy; Charcot Marie Tooth Neuropathy, Type 1A; Charcot Marie Tooth Neuropathy, Type 1B; Charcot Marie Tooth Syndrome; Dystasia, Hereditary Areflexic; Dystasias, Hereditary Areflexic; Hereditary Areflexic Dystasias; Hereditary Motor and Sensory Neuropathy Type II; Hereditary Neuropathy, Charcot-Marie-Tooth; Muscular Atrophies, Peroneal; Peroneal Muscular Atrophies; Roussy Levy Disease; Syndrome, Charcot-Marie-Tooth; Atrophy, Muscular, Peroneal; HMSN Type I; HMSN Type II; Hereditary Motor and Sensory-Neuropathy Type II; Hereditary Motor, and Sensory Neuropathy Type I; Muscular Atrophy, Peroneal; Roussy-Levy Syndrome

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Motor Neuropathy: 260
      - Charcot-Marie-Tooth Disease: 1018
- Neuromuscular Diseases: 2048
  - Peripheral Nervous System Diseases: 11768
    - Polyneuropathies: 5219
      - Hereditary Sensory and Motor Neuropathy: 260
        Charcot-Marie-Tooth Disease: 1018
- Nervous System Malformations: 36
  - Hereditary Sensory and Motor Neuropathy: 260
    - Charcot-Marie-Tooth Disease: 1018
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
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Sensory and Motor Neuropathy: 260
      - Charcot-Marie-Tooth Disease: 1018

Inherited Neuropathies Consortium Selected Research

Inherited Neuropathies Consortium Research Topics

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