Orphanet: Progressive polyneuropathy with bilateral striatal necrosis
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Progressive polyneuropathy with bilateral striatal necrosis

Disease definition

Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.

ORPHA:217396

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 613710
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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