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Clinically affected areas of the body include the upper or lower cranial region, the cervical region, the larynx, the trunk, and the upper or lower limbs. Focal dystonia affects only one region of the body while segmental dystonia affects two or more contiguous regions. Multifocal dystonia affects two or more non contiguous regions and generalized dystonia affects the trunk and two or more other areas. Finally, hemidystonia refers to a preponderance of symptoms limited to one side of the body. Occurrence of symptoms may also vary with the time of day. Dystonia may be persistent, diurnal, action specific, or paroxysmal. This panel includes all the common genetic causes of dystonia. The most common forms of hereditary isolated dystonia are caused by mutations in the TOR1A DYT1 and THAP1 DYT6 genes. Pathogenic variants in TOR1A account for 60% of cases of early onset generalized isolated dystonia in the general population and 90% of cases in the Ashkenazi Jewish population. This panel also includes other genes that have been identified as causes of isolated and combined dystonias, although the exact contribution of these genes to the overall detection rate is not known and is dependent on an individuals clinical presentation. Dystonia is most often inherited in an autosomal dominant pattern, including the forms associated with ANO3, ATP1A3, CIZ1, DRD2, GCH1, GNAL, KCTD17, PNKD, PRRT2, SGCE, SLC2A1, THAP1, TOR1A, and TUBB4A.


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Now they want to see it pay off. But being in office doesn't mean Cochran can accomplish anything she wants. The council she sits on recently voted against putting preservation status on a tract of land along Honolua Bay, the body of water that inspired her to run for office. "Many times, I am on the losing end of the votes," she said. "Yeah, it's frustrating, yeah, it's heartbreaking, but, you know, you move on. " The positive outcome, even when she loses a vote, she said, is that the community becomes aware of the issues. Maui Land and Pineapple Co. , which owns that piece of land, declined to comment for this story. Angus McKelvey, the state representative from the area, said giving the bay conservation status would have the unintended consequence of lowering its market value, and therefore devaluing pensions for people from Maui Land and Pineapple. The smarter move would be for the state or federal government to purchase the land with cash, so that the pensions would be protected, he said. Despite his disagreements with Cochran on these issues, he praised her ability to interest new people in politics.



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