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Charcot-Marie-Tooth disease type 2A1

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

Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.

Synonyms

  • CMT 2A
  • CMT2A
  • CMT2A1
  • Charcot Marie Tooth disease type 2A
  • Charcot-Marie-Tooth disease neuronal type 2A1
  • Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B
  • Charcot-Marie-Tooth disease type 2A
  • Charcot-Marie-Tooth disease type 2A1
  • Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1
  • Charcot-Marie-Tooth disease, axonal, type 2A
  • Charcot-Marie-Tooth disease, axonal, type 2A1
  • Charcot-Marie-Tooth disease, neuronal, type 2A
  • Charcot-Marie-Tooth disease, neuronal, type 2A1
  • Charcot-Marie-Tooth disease, type 2A1
  • Charcot-Marie-Tooth neuropathy type 2A1
  • Charcot-Marie-Tooth neuropathy, type 2A1
  • HMSN IIA
  • HMSN IIA1
  • HMSN IIa1
  • HMSN2A1
  • KIF1B Charcot-Marie-Tooth disease type 2
  • autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1
  • autosomal dominant Charcot-Marie-Tooth disease type 2A1
  • hereditary motor and sensory neuropathy 2 A
  • hereditary motor and sensory neuropathy IIA1
  • hereditary motor and sensory neuropathy IIa1
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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