Progressive polyneuropathy with bilateral striatal necrosis

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.

Disease data

Classification

Disease

ORPHA code

217396

OMIM code

613710

ICD10 code

E88.8

ICD11 code

*Soruce