Other Forms of Primary Dystonia

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Several other forms of primary inherited degenerative syndromes are associated with dystonia. y Like the parkinsonism-plus syndromes, the major hallmark in these dystonia-plus syndromes is dystonia, but this is accompanied by movement disorders. Dopa-responsive dystonia (DRD) is also an autosomal dominant disorder caused by a mutation in the GTP cyclohydrolase I gene on chromosome 14q, which causes a defect in dihydrobiopterin synthesis. These patients present with dystonia and parkinsonism that has a marked diurnal fluctuation. In the early morning they may be symptom-free or only mildly affected, but then a progressive gait disorder and cramping and rigidity develop during the day. These patients are markedly sensitive to low doses of levodopa, and often doses of Sinemet as low as 25/100 mg/day are effective in obliterating clinical signs. For this reason, it is particularly important to recognize DRD, and all children with dystonia and adults with leg or trunk dystonia deserve a trial of levodopa. Another syndrome, X-linked dystonia-parkinsonism, is much rarer and is confined largely to inhabitants of the Philippines.[5?i These patients, mostly men, develop severe axial dystonia and a hunched parkinsonian posture. Falls, dysphagia, and voice compromise follow, and these signs usually are preludes to death. In contrast, myoclonic dystonia (see later section on essential myoclonus) is a benign autosomal dominant disorder marked by a combination of dystonia and jerking myoclonic movements, usually starting in the first or second decade of life without other neurological deficits. These patients show a dramatic response to alcoholy and are treated with this product combined with benzodiazepines with usually excellent results. y

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