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Charcot-Marie-Tooth Disease
Definition: 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)

Synonym(s): 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 / Peroneal Muscular Atrophy / Roussy-Levy Syndrome / Charcot-Marie Disease / Charcot-Marie-Tooth Disease, Type I / Charcot-Marie-Tooth Disease, Type II / Charcot-Marie-Tooth Disease, Type Ia / Charcot-Marie-Tooth Disease, Type Ib / HMN Distal Type I / HMSN I / HMSN II / Hereditary Areflexic Dystasia / 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 / Areflexic Dystasia, Hereditary / Areflexic Dystasias, Hereditary / Atrophies, Peroneal Muscular / Atrophy, Peroneal Muscular / Charcot Marie Disease / Charcot Marie Tooth Disease / Charcot Marie Tooth Disease, Type I / Charcot Marie Tooth Disease, Type II / Charcot Marie Tooth Disease, Type Ia / Charcot Marie Tooth Disease, Type Ib / Dystasia, Hereditary Areflexic / Dystasias, Hereditary Areflexic / HMSN IIs / HMSN Is / HMSN Type IIs / HMSN Type Is / Hereditary Areflexic Dystasias / Hereditary Motor and Sensory Neuropathy Type II / Is, HMSN / Muscular Atrophies, Peroneal / Peroneal Muscular Atrophies / Roussy Levy Disease / Roussy Levy Syndrome / Syndrome, Roussy-Levy / Type IIs, HMSN
See also:
Myelin P0 Protein  Early Growth Response Protein 2   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles as well as sensory cells that detect sensations such as touch, pain, heat, and sound.
Symptoms of Charcot-Marie-Tooth disease usually begin in adolescence or early adulthood, but onset may occur anytime from early childhood to mid-adulthood. Symptoms vary in severity. Some people never realize they have the disorder, but most have a moderate amount of physical disability, and a small percentage ...

How common is Charcot-Marie-Tooth disease?
Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in all races and ethnic groups. Worldwide, this disorder affects about 1 in 3,300 people.


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See also: - Myelin P0 Protein

Broader term(s): - Hereditary Sensory and Motor Neuropathy - Nervous System Malformations - Nervous System Diseases
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Broader term(s): - Nervous System Diseases

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  Broader term(s):
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Heredodegenerative Disorders, Nervous System
                      Hereditary Sensory and Motor Neuropathy 
              Congenital Abnormalities
                  Nervous System Malformations
                      Hereditary Sensory and Motor Neuropathy 
      Diseases
          Nervous System Diseases
              Neuromuscular Diseases
                  Peripheral Nervous System Diseases
                      Polyneuropathies
                          Hereditary Sensory and Motor Neuropathy 
              Neurodegenerative Diseases
                  Heredodegenerative Disorders, Nervous System
                      Hereditary Sensory and Motor Neuropathy 
              Nervous System Malformations
                  Hereditary Sensory and Motor Neuropathy 

MeSH 2010 © U.S. National Library of Medicine®.

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