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Autosomal dominant Charcot-Marie-Tooth disease type 2B

Disease definition

A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

ORPHA:99936

Classification level: Disorder
  • Synonym(s):
    • CMT2B
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: G60.0
  • OMIM: 600882
  • UMLS: C1833219
  • MeSH: -
  • GARD: 9192
  • MedDRA: -

Detailed information

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