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Autosomal dominant Charcot-Marie-Tooth disease type 2L

Disease definition

Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.


  • Synonym(s):
    • CMT2L
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: G60.0
  • OMIM: 608673
  • UMLS: C3888087
  • MeSH: -
  • GARD: 12432
  • MedDRA: -

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