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X-linked Charcot-Marie-Tooth disease type 5

Disease definition

A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy.


Classification level: Disorder
  • Synonym(s):
    • CMT5X
    • CMTX5
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G60.0
  • ICD-11: LD90.Y
  • OMIM: 311070
  • UMLS: C1839566
  • MeSH: -
  • GARD: 114
  • MedDRA: -

Detailed information

General public


Disease review articles

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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