Orphanet: Autosomal dominant Charcot Marie Tooth disease type 2Q
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Autosomal dominant Charcot-Marie-Tooth disease type 2Q

Disease definition

A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.

ORPHA:329258

Classification level: Disorder
  • Synonym(s):
    • CMT2Q
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: G60.0
  • OMIM: 615025
  • UMLS: -
  • MeSH: -
  • GARD: 12446
  • MedDRA: -

Detailed information

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