Disease association ontology term - MONDO:0013382 - progressive demyelinating neuropathy with bilateral striatal necrosis
Term summary
- ID
- MONDO:0013382
- Name
- progressive demyelinating neuropathy with bilateral striatal necrosis
- Ontology or CV name
- Disease association
- 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.
