Charcot-Marie-Tooth disease axonal type 2F

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Disease Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.


Synonyms

  • CMT 2F
  • CMT2F
  • Charcot Marie Tooth disease type 2F
  • Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1
  • Charcot-Marie-Tooth disease type 2F
  • Charcot-Marie-Tooth disease, axonal, type 2F
  • Charcot-Marie-Tooth disease, neuronal, type 2F
  • Charcot-Marie-Tooth neuronal type 2F
  • Charcot-Marie-Tooth neuropathy type 2F
  • Charcot-Marie-Tooth neuropathy, type 2F
  • HSPB1 Charcot-Marie-Tooth disease type 2
  • autosomal dominant Charcot-Marie-Tooth disease type 2F

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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National Organization for Rare Disorders