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Charcot-Marie-Tooth disease type 4G

Disease definition

Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.

ORPHA:99953

  • Synonym(s):
    • CMT4G
    • HMSNR
    • Hereditary motor and sensory neuropathy, Russe Type
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent
  • ICD-10: G60.0
  • OMIM: 605285
  • UMLS: C1854449
  • MeSH: -
  • GARD: 10132
  • MedDRA: -

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