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Dopa-responsive dystonia

The spectrum of clinical manifestations in a large North American family

Department of Neurology (Drs. Nygaard and Fahn), Columbia University College of Physicians and Surgeons, New York, NY; Department of Neurology (Dr. Trugman), University of Virginia Medical Center, Charlottesville, VA; and Centre Ramón y Cahal (Dr. de Yebenes), Madrid, Spain.

We examined 106 members of a family affected with dopa-responsive dystonia (DRD), a subset of idiopathic dystonia. Ten members had unequivocal dystonia; 8 of these had generalized dystonia and the other 2 had focal dystonias (writer's cramp and spastic dysphonia). Twenty members had lesser dystonic signs and symptoms suggestive of a diagnosis of dystonia. Five members, including 1 with dystonia, had prominent parkinsonism that became symptomatic in late adulthood. All members affected with dystonia or parkinsonism had increased muscle tone (rigidity), which may represent the minimal clinical expression of DRD. Gene penetrance in families with DRD may be greater than previously suspected.

Address correspondence and reprint requests to Dr. Torbjoern G. Nygaard, Department of Neurology, 710 West 168th Street, New York, NY 10032.

Supported in part by the Dystonia Medical Research Foundation. Dr. Nygaard was the recipient of a Peggy and Siegfried Engl Fellowship from the Parkinson's Disease Foundation.

Presented in part at the 9th International Symposium on Parkinson's Disease, Jerusalem, Israel, June 1988.

Received May 3, 1989. Accepted for publication in final form June 9, 1989.

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