Hypomyelinating disorders

Dr Jeremy Jones et al.

Hypomyelinating disorders are a subset of white matter disorders characterised by abnormally low amounts of myelination. Clinically, they may be subcategorized into those with and without typical peripheral nervous system involvement (usually determined by nerve conduction studies). These include:

  • with typical peripheral nervous system involvement
    • hypomyelination with congenital cataract
    • 4H syndrome: hypomyelination, hypogonadotropic hypogonadism, and hypodontia
    • Cockayne syndrome
    • SOX10 (peripheral neuropathy, central hypomyelination, Waardenburg syndrome, Hirschsprung's disease)
  • no typical peripheral nervous system involvement
  • others

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Article information

rID: 15593
Section: Gamuts
Tag: cases, refs
Synonyms or Alternate Spellings:

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