Rett syndrome: An overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Identifieur interne : 003B24 ( Main/Merge ); précédent : 003B23; suivant : 003B25Rett syndrome: An overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Auteurs : Emmanuel Roze [France] ; Valérie Cochen [France] ; Sophie Sangla [France] ; Thierry Bienvenu [France] ; Anne Roubergue [France] ; Smaranda Leu-Semenescu [France] ; Marie Vidaihet [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-02-15.
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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21276
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<author><name sortKey="Sangla, Sophie" sort="Sangla, Sophie" uniqKey="Sangla S" first="Sophie" last="Sangla">Sophie Sangla</name>
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<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>
</double>
</record>
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