Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Identifieur interne : 002927 ( PubMed/Curation ); précédent : 002926; suivant : 002928Rett 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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pubmed:17216643Le document en format XML
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<author><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Saint-Antoine Hospital, AP-HP, Paris, France. emmanuel.roze@sat.aphp.fr</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Neurology, Saint-Antoine Hospital, AP-HP, Paris</wicri:regionArea>
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<author><name sortKey="Cochen, Valerie" sort="Cochen, Valerie" uniqKey="Cochen V" first="Valérie" last="Cochen">Valérie Cochen</name>
</author>
<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>
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<author><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name>
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<author><name sortKey="Leu Semenescu, Smaranda" sort="Leu Semenescu, Smaranda" uniqKey="Leu Semenescu S" first="Smaranda" last="Leu-Semenescu">Smaranda Leu-Semenescu</name>
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<term>Motor Skills Disorders (etiology)</term>
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<term>Parkinson Disease (etiology)</term>
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<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Rett Syndrome</term>
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<keywords scheme="MESH" xml:lang="en"><term>Female</term>
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<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>
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<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>
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