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History of Neurology: Seminal Citation
April 2005

Primary Torsion Dystonia

Arch Neurol. 2005;62(4):682-685. doi:10.1001/archneur.62.4.682

The term primary torsion dystonia describes a group of neurodegenerative disorders characterized by prolonged muscle contractions that cause sustained twisting movements and abnormal postures of affected body parts. Despite early clear descriptions of this disorder, primary torsion dystonia was recognized as a distinct entity very recently, and it was more than half a century before physicians accepted that this seemingly bizarre condition was due to a hereditary brain disease. This article highlights several citations regarding the history of the initial descriptions and the discoveries of the genetic aspects of the disease.

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