Progressive polyneuropathy with bilateral striatal necrosis

Orpha code: 217396OMIM code: 613710

Definicja

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.

Disease data
Klasyfikacja

Disease

Kod ORPHA
217396
Kod OMIM
613710
Kod ICD10
E88.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl