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GTR Home > Conditions/Phenotypes > Progressive demyelinating neuropathy with bilateral striatal necrosis

Progressive demyelinating neuropathy with bilateral striatal necrosis

Synonyms
BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY; Striatal necrosis, bilateral, and progressive polyneuropathy; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Thiamine metabolism dysfunction syndrome-4 is an autosomal recessive metabolic disorder characterized by childhood onset of episodic encephalopathy, often associated with a febrile illness, and causing transient neurologic dysfunction. Most patients recover fully, but some may have mild residual weakness. Affected individuals also develop a slowly progressive axonal polyneuropathy beginning in childhood. Brain imaging during the acute episodes shows lesions consistent with bilateral striatal degeneration or necrosis (summary by Spiegel et al., 2009). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270). [from OMIM]

Available tests

40 tests are in the database for this condition.

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Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DNC, MCPHA, MUP1, THMD3, THMD4, TPC, SLC25A19
    Summary: solute carrier family 25 member 19

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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