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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

Disease definition

A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients.

ORPHA:435819

Classification level: Disorder
  • Synonym(s):
    • CMT2 due to TFG mutation
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G60.0
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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