A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 2392218.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We report the clinical and laboratory findings in 2 siblings with a syndrome of pigmentary retinopathy, blepharospasm, and dystonia. This entity most resembles Hallervorden-Spatz disease, but appears to be a distinct disorder without identifiable neuroimaging or biochemical abnormalities.
Medical subject headings
- Basal Ganglia Diseases
- Blepharospasm
- Dystonia
- Eyelid Diseases
- Retinitis Pigmentosa