Article
"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.
Movement disorders : official journal of the Movement Disorder Society - 15 Apr 2009
Asmus Friedrich, Langseth Annette, Doherty Elaine, Nestor Therese, Munz Marita, Gasser Thomas, Lynch Tim, King Mary D
Abstract excerpt
Hyperkinetic dystonia is characterized by phasic, tremulous, and "jerky" 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-dystonia, of whom seven carried heterozygous epsilon sarcoglycan (SGCE)...
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