/progressive demyelinating neuropathy with bilateral striatal necrosis

progressive demyelinating neuropathy with bilateral striatal necrosis

Rare Disease

MONDO:0013382

Also Known As

thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)THMD4bilateral striatal Degeneration and progressive polyneuropathyprogressive polyneuropathy with bilateral striatal necrosisstriatal Necrosis, bilateral, and progressive polyneuropathythiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)

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.