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Genetic and Rare Diseases Information Center (GARD)

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Charcot-Marie-Tooth disease type 1A


Other Names for this Disease
  • Charcot Marie Tooth disease type 1A
  • Charcot-Marie-Tooth disease, demyelinating, type 1A
  • CMT 1A
  • Hereditary motor and sensory neuropathy 1A
  • HMSN 1A
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Overview


Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications.[1]
Last updated: 9/7/2012

References

  1. Charcot-Marie-Tooth Disease Fact Sheet. National Institute of Neurological Disorders and Stroke Website. December 11, 2007; http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm. Accessed 2/3/2009.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Charcot-Marie-Tooth disease type 1A. This website is maintained by the National Library of Medicine.
  • The Muscular Dystrophy Association has deveopled an information page titled "Surgery Sometimes, Bracing Often, Caution Always: Caring for the CMT-affected foot." Click on Muscular Dystrophy Association to view this information page.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Charcot-Marie-Tooth disease type 1A. Click on the link to view a sample search on this topic.