The syndrome of myoclonic epilepsy with ragged-red fibers. Report of a case and review of the literature.
A patient with intention and action myoclonus, epilepsy, ataxia, and mental deterioration in association with ragged-red fibers in striated muscle is described. This patient demonstrated a unique form of erratic myoclonus with continuous EEG spike activity during eye closure. Both the myoclonus and the EEG spiking disappeared on opening the eyes. A defect in the activity of complex I in the respiratory chain was demonstrated.
D000293:Adolescent; D001259:Ataxia / Q000503:physiopathology; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000503:physiopathology; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000503:physiopathology; D012508:Sarcolemma / Q000648:ultrastructure; D013577:Syndrome