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NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

Disease definition

A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.

ORPHA:527497

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia
    • SPAX8
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: E75.2
  • OMIM: 617560
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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