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What role do gene mutations play in dystonia?

Not everyone who inherits a dystonia gene mutation will develop symptoms. Most of the dystonias for which gene mutations have been identified are dominantly inherited, meaning that only one parent needs to have the mutation for a child to inherit the disorder. However, most dystonia mutations also exhibit reduced penetrance, which means that not every person who inherits the gene will develop symptoms.

Scientists are actively seeking additional dystonia genes. Studying the genetics of dystonia will not only help refine diagnostic and reproductive technology applications, but it also contributes greatly to our understanding of dystonia and quest for better treatments and a cure.

Every time a new dystonia gene or gene mutation is discovered, it provides a therapeutic target for new treatment approaches.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.