Annals of Indian Academy of Neurology
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Year : 2016  |  Volume : 19  |  Issue : 2  |  Page : 258-260

Sporadic and familial myoclonic dystonia: Report of three cases and review of literature

Department of Neuromedicine, Bangur Institute of Neurosciences, Kolkata, West Bengal, India

Correspondence Address:
Kalyan B Bhattacharyya
Amrapali Point, Flat 1C, 59F, Bosepukur Road, Kolkata - 700 042
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-2327.168625

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Myoclonic dystonia refers to a clinical syndrome characterized by rapid jerky movements along with dystonic posturing of the limbs. Clinically, it is characterized by sudden, brief, electric shock-like movements, mostly involving the upper extremities, shoulders, neck and trunk. Characteristically, the movements wane with consumption of small dose of alcohol in about 50% of cases. Additionally, dystonic contractions are observed in most of the patients in the affected body parts and some patients may exhibit cervical dystonia or graphospasm as well. It may manifest as an autosomal dominant condition or sometimes, as a sporadic entity, though there are doubts whether these represent cases with reduced penetrance. The condition is usually treated with a combination of an anticholinergic agent like, benztropine, pimozide and tetrabenazine. We report one sporadic case and one familial case where the father and the son are affected. The cases were collected from the Movement Disorders Clinic of Bangur Institute of Neurosciences, Kolkata, West Bengal in a period of ten months. Myoclonic dystonia is a rare condition and to the best of our knowledge, this series is the first one reported from our country. Videos of the patients are also provided with the article.

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