Progressive demyelinating neuropathy with bilateral striatal necrosis

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.

Also known as: thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), THMD4, bilateral striatal Degeneration and progressive polyneuropathy, progressive polyneuropathy with bilateral striatal necrosis, striatal Necrosis, bilateral, and progressive polyneuropathy, thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)

31 clinical trials for this condition and its sub-types.