Agent Commons Collaborative Research

Progressive demyelinating neuropathy with bilateral striatal necrosis

rare

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.

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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