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ATP13A2-related juvenile neuronal ceroid lipofuscinosis

Disease definition

A rare neuronal ceroid lipofiscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon post mortem.

ORPHA:314632

Classification level: Disorder
  • Synonym(s):
    • CLN12 disease
    • Juvenile parkinsonism-neuronal ceroid lipofuscinosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E75.4
  • OMIM: 606693
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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