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Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

Disease definition

A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

ORPHA:100044

Classification level: Disorder
  • Synonym(s):
    • CMTDIB
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: G60.0
  • OMIM: 606482
  • UMLS: C1847902
  • MeSH: -
  • GARD: 12438
  • MedDRA: -

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