Agent Commons Collaborative Research
Progressive demyelinating neuropathy with bilateral striatal necrosis
rareProgressive 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.
- Identifiers
- MONDO:0013382 OMIM:613710Orphanet:217396
- Causal genes
- SLC25A19
- Also known as
- thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) · thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) · THMD4
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