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Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Disease definition

This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

ORPHA:137898

Classification level: Disorder
  • Synonym(s):
    • LBSL
    • Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E88.8
  • OMIM: 611105
  • UMLS: C1970180
  • MeSH: -
  • GARD: 12652
  • MedDRA: -

Detailed information

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