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Charcot-Marie-Tooth disease recessive intermediate A

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 recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.

Synonyms

  • CMTRIA
  • Charcot-Marie-Tooth disease caused by mutation in GDAP1
  • Charcot-Marie-Tooth disease recessive intermediate type A
  • Charcot-Marie-Tooth disease, recessive Intermediate type a
  • Charcot-Marie-Tooth disease, recessive intermediate A
  • Charcot-Marie-Tooth disease, recessive intermediate, A
  • Charcot-Marie-Tooth neuropathy recessive intermediate A
  • Charcot-Marie-Tooth neuropathy, recessive Intermediate a
  • GDAP1 Charcot-Marie-Tooth disease
  • RI-CMT type A
  • RI-CMTA
  • Ri-Cmta
  • autosomal recessive intermediate Charcot-Marie-Tooth disease type A
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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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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