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Dystonia
Inheritance patterns and prenatal diagnosis
Inheritance patterns
It is mainly the more severe childhood onset forms that are genetic in origin. Both DYT1 dystonia and dopa-responsive dystonia are inherited in an autosomal dominant pattern. This means that any child of an affected parent has a 50/50 chance of inheriting the abnormal gene. However, it is clear that even if an individual inherits the abnormal gene, this does not always mean that they develop dystonia. Thus for DYT1 dystonia the risk to a child of an affected parent of developing dystonia is around 20 per cent. More recently other rarer forms have been identified such as DYT6 dystonia that predominantly affecting the larynx, oromandicular and neck muscles. This is also inherited as an autosomal dominant trait.
Prenatal diagnosis
It is possible to test for the mutation in the DYT1 gene, although this is rarely performed as the majority of people who carry the mutated gene do not develop dystonia during their lifetime. Thus, the usefulness of this test in predicting whether the individual will develop dystonia is very limited.
What are the causes?
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