Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders

TL;DR

This paper provides a guide for clinicians on genetic testing and interpretation in hyperkinetic movement disorders.

Contribution

The paper offers practical guidance on genetic terminology and testing selection for diagnosing hyperkinetic movement disorders.

Findings

Genetic testing choices and interpretation are complex in hyperkinetic movement disorders.

Systematic review of genetic terminology and testing approaches is essential for accurate diagnosis.

Abstract

The diagnosis of genetic hyperkinetic movement disorders has become increasingly more complex as new genes are discovered and technologies offer new diagnostic possibilities. As a result, the choice of appropriate gene testing and the interpretation of the results can become difficult to navigate for movement disorder experts and clinicians. In parallel, research is becoming crucial to pair with clinical assessments in order to explore advanced sequencing technologies and allow new genes discovery.

Systematic review of genetic forms of hyperkinetic movement disorders and of the most relevant genetic terminology was performed.

Comprehensive descriptions of genetic lexicon, testing selection, and complex genetic findings related to hyperkinetic movement disorders are reported.

Here we discuss the terminology of genetic diagnosis that is now part of the clinical practice, the difficulties related to the interpretation of complex genetic results, and provide guidance and tips for gene testing selection in order not to miss important diagnosis of genetic hyperkinetic movement disorders.

To review the most relevant lexicon related to genetic diagnosis, approach to gene testing, testing selection, and complex genetic findings in genetic hyperkinetic movement disorders.

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