A family with a hereditary form of torsion dystonia from Northern Sweden treated with bilateral pallidal deep brain stimulation

作者: Patric Blomstedt , Marwan I. Hariz , Stephen Tisch , Monica Holmberg , Tommy A. Bergenheim

DOI: 10.1002/MDS.22842

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摘要: To evaluate pallidal DBS in a non-DYT1 form of hereditary dystonia. We present the results family with dystonia where DYT5 to 17 was excluded. The is following an autosomal dominant pattern. Ten members had definite and five minor symptoms. Four patients received bilateral DBS. Mean age 47 years. were evaluated before surgery, "on" stimulation after mean 2.5 years (range 1-3) using Burke-Fahn-Marsden scale (BFM). BFM score decreased by 79 % on stimulation, from 42.5 +/- 24 9 6.5 at last evaluation. Cervical involvement improved 89%. 2 oromandibular blepharospasm demonstrated reduction 95% regarding these study confirms effectiveness new primary segmental generalized

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