What role do gene mutations play in dystonia?

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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.

Continue Learning about Dystonia

Dystonia

When your muscles contract involuntarily, the condition is called dystonia. Dystonia causes a twisting or clenching of whatever body part is affected. For example, when you have a stroke, the affected arm and hand may be clenched ...

and held in a strange position. Dystonia can be very mild or very severe. It can make your life very difficult and this can lead to frustration, depression or anxiety. See your doctor to treat your symptoms and talk over your frustrations.
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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.