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Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Disease definition

Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.

ORPHA:363412

Classification level: Disorder
  • Synonym(s):
    • HBSL
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Infancy, Neonatal
  • ICD-10: E75.2
  • OMIM: 615281
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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