Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Identifieur interne : 000D64 ( PubMed/Curation ); précédent : 000D63; suivant : 000D65Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Auteurs : Emmanuel Roze [France] ; Valérie Cochen ; Sophie Sangla ; Thierry Bienvenu ; Anne Roubergue ; Smaranda Leu-Semenescu ; Marie VidaihetSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Rett Syndrome.
- etiology : Dystonia, Motor Skills Disorders, Parkinson Disease.
- physiology : Movement.
- physiopathology : Rett Syndrome.
- Female, Hand, Humans, Middle Aged.
Abstract
Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.
DOI: 10.1002/mds.21276
PubMed: 17216643
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uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name></author><author><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name></author><author><name sortKey="Leu Semenescu, Smaranda" sort="Leu Semenescu, Smaranda" uniqKey="Leu Semenescu S" first="Smaranda" last="Leu-Semenescu">Smaranda Leu-Semenescu</name></author><author><name sortKey="Vidaihet, Marie" sort="Vidaihet, Marie" uniqKey="Vidaihet M" first="Marie" last="Vidaihet">Marie Vidaihet</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:17216643</idno><idno type="pmid">17216643</idno><idno type="doi">10.1002/mds.21276</idno><idno type="wicri:Area/PubMed/Corpus">000E04</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000E04</idno><idno type="wicri:Area/PubMed/Curation">000D64</idno><idno 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Sangla</name></author><author><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name></author><author><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name></author><author><name sortKey="Leu Semenescu, Smaranda" sort="Leu Semenescu, Smaranda" uniqKey="Leu Semenescu S" first="Smaranda" last="Leu-Semenescu">Smaranda Leu-Semenescu</name></author><author><name sortKey="Vidaihet, Marie" sort="Vidaihet, Marie" uniqKey="Vidaihet M" first="Marie" last="Vidaihet">Marie Vidaihet</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia (etiology)</term><term>Female</term><term>Hand</term><term>Humans</term><term>Middle Aged</term><term>Motor Skills Disorders (etiology)</term><term>Movement (physiology)</term><term>Parkinson Disease (etiology)</term><term>Rett Syndrome (diagnosis)</term><term>Rett Syndrome (physiopathology)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Rett Syndrome</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonia</term><term>Motor Skills Disorders</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Movement</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Rett Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Hand</term><term>Humans</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">17216643</PMID><DateCreated><Year>2007</Year><Month>03</Month><Day>06</Day></DateCreated><DateCompleted><Year>2007</Year><Month>05</Month><Day>01</Day></DateCompleted><DateRevised><Year>2007</Year><Month>03</Month><Day>06</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>3</Issue><PubDate><Year>2007</Year><Month>Feb</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?</ArticleTitle><Pagination><MedlinePgn>387-9</MedlinePgn></Pagination><Abstract><AbstractText>Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Roze</LastName><ForeName>Emmanuel</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Neurology, Saint-Antoine Hospital, AP-HP, Paris, France. emmanuel.roze@sat.aphp.fr</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cochen</LastName><ForeName>Valérie</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Sangla</LastName><ForeName>Sophie</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Bienvenu</LastName><ForeName>Thierry</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Roubergue</LastName><ForeName>Anne</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Leu-Semenescu</LastName><ForeName>Smaranda</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Vidaihet</LastName><ForeName>Marie</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D004421" MajorTopicYN="N">Dystonia</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006225" MajorTopicYN="Y">Hand</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019957" MajorTopicYN="N">Motor Skills Disorders</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009068" MajorTopicYN="N">Movement</DescriptorName><QualifierName UI="Q000502" MajorTopicYN="Y">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015518" MajorTopicYN="N">Rett Syndrome</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000503" MajorTopicYN="Y">physiopathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>1</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>5</Month><Day>2</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>1</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">17216643</ArticleId><ArticleId IdType="doi">10.1002/mds.21276</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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