Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging.
We report two families with a disorder, probably autosomal recessive, characterized by tremor of juvenile onset, dystonia, and myoclonus with preserved cognitive, cerebellar, and peripheral nervous system functions. During 4 years' follow-up, mild spasticity appeared. Magnetic resonance imaging (MRI) revealed mild diffuse changes in the white matter. Central conduction times for visual, motor, and sensory systems were all prolonged. Extensive metabolic work-up failed to reveal lysosomal, peroxisomal, mitochondrial, or other metabolic abnormalities.
Bohlega
S
S
Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Stigsby
B
B
al-Kawi
M Z
MZ
McLean
D R
DR
Ozand
P
P
Omer
S
S
Coates
P
P
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D012529:Saudi Arabia; D014202:Tremor / Q000175:diagnosis / Q000235:genetics*