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Charcot-Marie-Tooth disease type 1A

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited 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 byhaving 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.

Synonyms

  • CMT 1A
  • CMT1A
  • Charcot Marie Tooth disease type 1A
  • Charcot-Marie-Tooth disease type 1A
  • Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A
  • Charcot-Marie-Tooth disease, demyelinating, type 1A
  • Charcot-Marie-Tooth disease, type 1A
  • Charcot-Marie-Tooth neuropathy type 1A
  • Charcot-Marie-Tooth neuropathy, type 1A
  • Charcot-Marie-Tooth syndrome type 1A
  • HMSN 1A
  • HMSN1A
  • autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
  • hereditary motor and sensory neuropathy 1A
  • microduplication 17p12
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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