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Autosomal dominant Charcot-Marie-Tooth disease type 2M

Disease definition

Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.

ORPHA:228179

  • Synonym(s):
    • CMT2M
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: G60.0
  • OMIM: 606482
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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