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Am J Med Genet A. 2015 Mar;167A(3):639-45. doi: 10.1002/ajmg.a.36928. Epub 2015 Feb 13.

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.

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The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Toronto, Ontario, Canada; Department of Nuclear Medicine, Academic Medical Centre, Amsterdam, The Netherlands; Department of Psychiatry, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.


Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice.


22q11 deletion syndrome; adult; antipsychotic agents; essential tremor; movement disorders; myoclonus; parkinsonian disorders

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