A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy
- 1 September 1990
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 40 (9) , 1359
- https://doi.org/10.1212/wnl.40.9.1359
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.This publication has 1 reference indexed in Scilit:
- Ophthalmic Manifestations of Infantile Phytanic Acid Storage DiseaseArchives of Ophthalmology (1950), 1984