A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy.
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.
Coppeto
J R
JR
St. Mary's Hospital, Waterbury, CT.
Lessell
S
S
D000293:Adolescent; D000328:Adult; D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D001764:Blepharospasm / Q000235:genetics*; D004421:Dystonia / Q000000981:diagnostic imaging / Q000235:genetics*; D005141:Eyelid Diseases / Q000235:genetics*; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000000981:diagnostic imaging / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed