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.
MONDO:0000152
thiamine-responsive dysfunction syndrome
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
THMD4
related
thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)
related
thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
exact
SPBC1604.04