Advances in genetics have elucidated the etiology of several complex hyperkinetic movement disorders. Marcelo Kauffman, MD, PhD, Hospital JM Ramos Mejia, Buenos Aires, Argentina, discusses the main challenges in the genomic evaluation of patients with hyperkinetic movement disorders, a heterogeneous group of neurological disorders. Diagnostic approaches based on genetic testing are progressively becoming a first-line asset in the diagnostic pipeline for these complex disorders, partially bypassing the difficulties of the clinical assessment. The challenge now is to better understand the causal relationship between the genetic variabilities found and the phenotypes. Still, the increasing availability of genetic testing in clinical practice will allow clinicians to provide personalized treatments to patients with hyperkinetic movement disorders. This interview took place at the 2022 International Congress of Parkinson’s Disease and Movement Disorders in Madrid, Spain.
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