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Charcot-Marie-Tooth disease type 1D

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Disease Overview

A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.

Synonyms

  • CMT 1D
  • CMT1D
  • Charcot Marie Tooth disease type 1D
  • Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2
  • Charcot-Marie-Tooth disease, demyelinating, type 1D
  • Charcot-Marie-Tooth disease, type 1D
  • Charcot-Marie-Tooth neuropathy type 1D
  • Charcot-Marie-Tooth neuropathy, type 1D
  • EGR2 Charcot-Marie-Tooth disease type 1
  • HMSN 1D
  • HMSN ID
  • HMSN1D
  • hereditary motor and sensory neuropathy 1D
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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