Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.
Identifieur interne : 000544 ( PubMed/Corpus ); précédent : 000543; suivant : 000545Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.
Auteurs : Erik Boot ; Nancy J. Butcher ; Thérèse A M J. Van Amelsvoort ; Anthony E. Lang ; Connie Marras ; Margarita Pondal ; Danielle M. Andrade ; Wai Lun Alan Fung ; Anne S. BassettSource :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2015.
English descriptors
- KwdEn :
- Adult, Clozapine (adverse effects), DiGeorge Syndrome (complications), DiGeorge Syndrome (diagnosis), DiGeorge Syndrome (genetics), Diagnosis, Differential, Female, Humans, Male, Middle Aged, Movement Disorders (complications), Movement Disorders (diagnosis), Movement Disorders (etiology), Myoclonus (chemically induced), Myoclonus (diagnosis), Parkinsonian Disorders, Patellar Dislocation (complications), Patellar Dislocation (diagnosis), Phenotype, Spinal Cord Compression (complications), Spinal Cord Compression (diagnosis), Tremor, Young Adult.
- MESH :
- chemical , adverse effects : Clozapine.
- chemically induced : Myoclonus.
- complications : DiGeorge Syndrome, Movement Disorders, Patellar Dislocation, Spinal Cord Compression.
- diagnosis : DiGeorge Syndrome, Movement Disorders, Myoclonus, Patellar Dislocation, Spinal Cord Compression.
- etiology : Movement Disorders.
- genetics : DiGeorge Syndrome.
- Adult, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Parkinsonian Disorders, Phenotype, Tremor, Young Adult.
Abstract
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.
DOI: 10.1002/ajmg.a.36928
PubMed: 25684639
Links to Exploration step
pubmed:25684639Le document en format XML
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<front><div type="abstract" xml:lang="en">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.</div>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>© 2015 Wiley Periodicals, Inc.</CopyrightInformation>
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