Orphanet: Autosomal dominant Charcot Marie Tooth disease type 2O
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Autosomal dominant Charcot-Marie-Tooth disease type 2O

Disease definition

A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.

ORPHA:284232

Classification level: Disorder
  • Synonym(s):
    • CMT2O
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G60.0
  • OMIM: 614228
  • UMLS: -
  • MeSH: -
  • GARD: 12434
  • MedDRA: -

Detailed information

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