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X-linked Charcot-Marie-Tooth disease type 1

Disease definition

X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.


Classification level: Disorder
  • Synonym(s):
    • CMT1X
    • CMTX1
  • Prevalence: Unknown
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • ICD-11: 8C20.0
  • OMIM: 302800
  • UMLS: C0393808
  • MeSH: C535919
  • GARD: 1258
  • MedDRA: -

Detailed information

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Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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