Abstract
Myoclonus-dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation-positive and -negative cases.
2007 Movement Disorder Society
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Age of Onset
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Child
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Child, Preschool
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Chromosomes, Human, Pair 7 / genetics
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DNA Primers / genetics
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DNA, Complementary / genetics
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Disease Progression
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Dystonia* / epidemiology
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Dystonia* / genetics
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Dystonia* / physiopathology
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Electromyography
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Exons / genetics
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Female
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Follow-Up Studies
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Humans
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Infant
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Male
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Middle Aged
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Molecular Chaperones / genetics
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Muscle, Skeletal / innervation
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Muscle, Skeletal / physiopathology
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Myoclonus* / epidemiology
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Myoclonus* / genetics
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Myoclonus* / physiopathology
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Point Mutation / genetics
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Protein Splicing / genetics
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Sarcoglycans / genetics
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Syndrome
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Upper Extremity / physiopathology
Substances
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DNA Primers
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DNA, Complementary
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Molecular Chaperones
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SGCE protein, human
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Sarcoglycans
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TOR1A protein, human