Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: a case of adult-onset GM1 gangliosidosis.
We describe a 46-year-old woman with adult-onset generalised dystonia and a severe speech disorder with an abnormal magnetic resonance imaging signal in the basal ganglia. A storage disease study demonstrated the presence of a GM1 gangliosidosis. This rare condition should be investigated in cases of generalised dystonia, especially in those cases with other features suggesting symptomatic dystonia.
D001479:Basal Ganglia / Q000473:pathology*; D004421:Dystonia / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D016537:Gangliosidosis, GM1 / Q000150:complications* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D013064:Speech Disorders / Q000175:diagnosis / Q000209:etiology