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Charcot-Marie-Tooth disease type 4C

Disease definition

Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.

ORPHA:99949

  • Synonym(s):
    • CMT4C
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • OMIM: 601596
  • UMLS: C1866636
  • MeSH: C535423
  • GARD: 9201
  • MedDRA: -

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