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Charcot-Marie-Tooth disease type 1C

Disease definition

A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.

ORPHA:101083

Classification level: Disorder
  • Synonym(s):
    • CMT1C
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: G60.0
  • OMIM: 601098
  • UMLS: C0270913
  • MeSH: C537984
  • GARD: 1247
  • MedDRA: -

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