{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T05:22:05Z","timestamp":1761196925565,"version":"build-2065373602"},"reference-count":45,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,12,31]],"date-time":"2008-12-31T00:00:00Z","timestamp":1230681600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2009,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hyperkinetic dystonia is characterized by phasic, tremulous, and \u201cjerky\u201d movements in addition to twisting postures. We studied longitudinally 23 index patients with hyperkinetic dystonia from a quaternary pediatric movement disorder clinic in Ireland. Four clinical categories emerged: (1) Eight patients were diagnosed with myoclonus\u2010dystonia, of whom seven carried heterozygous epsilon sarcoglycan (<jats:italic>SGCE<\/jats:italic>) mutations, including a novel deletion of exon 10. Gait disorder, unsteadiness, or frequent falls before 18 months were detected in all <jats:italic>SGCE<\/jats:italic> mutation carriers, whereas the typical neck\u2010predominant presentation developed only years later. (2) One patient classified as benign hereditary chorea, because jerks were choreiform and continuous rather than action\u2010induced, carried a heterozygous stop mutation of the <jats:italic>TITF<\/jats:italic>\u20101 gene (Y114X, exon 2). (3) Three mutation\u2010negative patients were grouped as \u201cmyoclonic dystonia\u201d with jerks only in the body regions affected by dystonia. (4) Eleven patients presented with a novel combination of dystonia and low amplitude poly\u2010mini myoclonus of the upper limbs and pectoral muscles (D\u2010PMM). In early childhood up to 3 years of age, an initial presentation with predominant gait impairment with only subtle jerks should prompt consideration of <jats:italic>SGCE<\/jats:italic> mutation analysis in addition to testing for DYT1 mutations. A causative gene for D\u2010PMM remains to be identified. \u00a9 2008 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22426","type":"journal-article","created":{"date-parts":[[2009,1,2]],"date-time":"2009-01-02T03:06:56Z","timestamp":1230865616000},"page":"702-709","source":"Crossref","is-referenced-by-count":32,"title":["\u201cJerky\u201d dystonia in children: Spectrum of phenotypes and genetic 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