Genetic Testing of Movements Disorders: A Review of Clinical Utility.

Tremor Other Hyperkinet Mov (N Y)

Translational Neurogenomics Group, Neurology Department & Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW, Australia.

Published: January 2024

AI Article Synopsis

  • * The effectiveness and best scenarios for using genetic testing for diagnosing movement disorders are still unclear, necessitating a careful approach in clinical practice.
  • * The review discusses the broad utility of genetic testing and the challenges associated with it, emphasizing that each case should be evaluated individually before deciding on testing.

Article Abstract

Unlabelled: Currently, pathogenic variants in more than 500 different genes are known to cause various movement disorders. The increasing accessibility and reducing cost of genetic testing has resulted in increasing clinical use of genetic testing for the diagnosis of movement disorders. However, the optimal use case(s) for genetic testing at a patient level remain ill-defined. Here, we review the utility of genetic testing in patients with movement disorders and also highlight current challenges and limitations that need to be considered when making decisions about genetic testing in clinical practice.

Highlights: The utility of genetic testing extends across multiple clinical and non-clinical domains. Here we review different aspects of the utility of genetic testing for movement disorders and the numerous associated challenges and limitations. These factors should be weighed on a case-by-case basis when requesting genetic tests in clinical practice.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10785957PMC
http://dx.doi.org/10.5334/tohm.835DOI Listing

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