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Severe neurodegenerative syndrome with lipodystrophy

Disease definition

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

ORPHA:363400

Classification level: Disorder
  • Synonym(s):
    • Severe neurodegenerative syndrome due to BSCL2 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G31.8
  • OMIM: 615924
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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