The identification of various genetic causes of hypokinetic and hyperkinetic movement disorders has greatly impacted the definition of different clinical syndromes. Marcelo Kauffman, MD, PhD, Hospital JM Ramos Mejia, Buenos Aires, Argentina, talks about integrating genetic testing into the management of hyperkinetic movement disorders and highlights the clinical scenarios where genetic testing is most beneficial. Many genetic conditions can manifest with hyperkinetic movement disorders, and many have a particular treatment that differs from others and can be guided by a genetic diagnosis. For instance, the genetic etiology of dystonia appears to be a determinant of deep brain stimulation response, with the greatest response seen in those with DYT-1 genetic dystonia. Similarly, patients with certain variants of paroxysmal kinesigenic dyskinesia respond well to sodium channel blockers. This interview took place at the 2022 International Congress of Parkinson’s Disease and Movement Disorders in Madrid, Spain.
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