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Charcot-Marie-Tooth disease type 1D

ORPHA101084
Synonym(s) CMT1D
Prevalence -
Inheritance Autosomal dominant
Age of onset Adolescent
Infancy
Childhood
Adult
ICD-10
  • G60.0
OMIM
UMLS
  • C1843247
MeSH
  • C537985
MedDRA -

Summary

Disease definition

Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), 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.

Expert reviewer(s)

  • Dr Davide PAREYSON
  • Dr Chiara PISCIOTTA

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