Dystonia as a presenting sign of spinocerebellar ataxia type 1.
We report on a 39-year-old man who presented initially with marked blepharospasm, oromandibular dystonia and retrocollis and one year later developed mild ataxia. Our findings suggest that dystonia can be a disabling presenting sign of SCA1 and support the clinical heterogeneity of SCA1, highlighting the importance of considering this entity in patients combining dystonia and cerebellar ataxia.
Wu
Yih-Ru
YR
Second Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang-Gung University, Taipei, Taiwan.
Lee-Chen
Guey-Jen
GJ
Lang
Anthony E
AE
Chen
Chiung-Mei
CM
Lin
Hsuan-Yuan
HY
Chen
Sien-Tsong
ST
D000328:Adult; D001764:Blepharospasm / Q000175:diagnosis; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D004421:Dystonia / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D012438:Saccades / Q000502:physiology; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D014743:Videotape Recording