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Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

Disease definition

A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.

ORPHA:401964

Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
    • CMT2 with giant axons
    • HMSN2 with giant axons
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood
  • ICD-10: G60.0
  • OMIM: 610100
  • UMLS: -
  • MeSH: -
  • GARD: 12447
  • MedDRA: -

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