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Charcot Marie Tooth Disease

Abstract

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NORD is very grateful to Steven Scherer, MD, PhD, Department of Neurology, University of Pennsylvania and Mustafa Saifi, PhD, Department of Molecular and Human Genetics, Baylor College of Medicine, for assistance in the preparation of this report.

Synonyms of Charcot Marie Tooth Disease

  • CMT
  • hereditary motor and sensory neuropathy
  • HSMN
  • peroneal muscular atrophy

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Charcot Marie Tooth disease is a group of disorders in which the motor and/or sensory peripheral nerves are affected, resulting in muscle weakness and atrophy, as well as sensory loss. These manifestions occur first in the distal legs and later in the hands. The nerve cells in individuals with this disorder are not able to send electrical signals properly because of abnormalities in the nerve axon or abnormalities in the insulation (myelin) around the axon. Specific gene mutations are responsible for the abnormal function of the peripheral nerves. Charcot Marie Tooth disease can be inherited in an autosomal dominant, autosomal recessive or X-linked mode of inheritance.

Organizations related to Charcot Marie Tooth Disease

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