Abstract
Adolescent-onset scoliosis occurs more frequently than expected in primary adult-onset cervical dystonia and a genetic association between the conditions has been postulated. The authors report a family in which four members have adult-onset cervical and/or brachial dystonia, two of whom have coexistent scoliosis. Four other individuals have isolated childhood- or adolescent-onset scoliosis. Adolescent-onset scoliosis may represent part of the dystonia phenotype in this family.
MeSH terms
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Adolescent
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Adult
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Age of Onset
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Aged
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Aged, 80 and over
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Arm / physiopathology
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DNA Mutational Analysis
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Dystonic Disorders / complications*
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Dystonic Disorders / genetics*
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Dystonic Disorders / physiopathology
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Family Health
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Female
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Genetic Testing
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Humans
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Ireland
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Male
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Middle Aged
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Molecular Chaperones / genetics
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Molecular Chaperones / metabolism
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Mutation / genetics
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Pedigree
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Scoliosis / complications*
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Scoliosis / genetics*
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Scoliosis / physiopathology
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Torticollis / complications*
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Torticollis / genetics*
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Torticollis / physiopathology
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Tremor / genetics
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Tremor / physiopathology
Substances
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Molecular Chaperones
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TOR1A protein, human