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Charcot-Marie-Tooth disease type 2P

Disease definition

Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.

ORPHA:300319

Classification level: Disorder
  • Synonym(s):
    • CMT2P
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: G60.0
  • OMIM: 614436
  • UMLS: -
  • MeSH: -
  • GARD: 12435
  • MedDRA: -

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