Rett syndrome: An overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Identifieur interne : 000319 ( France/Analysis ); précédent : 000318; suivant : 000320Rett 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Diagnosis, Dystonia, Dystonia (etiology), Female, Hand, Human, Humans, Middle Aged, Motor Skills Disorders (etiology), Movement (physiology), Nervous system diseases, Parkinson Disease (etiology), Parkinsonism, Psychomotor retardation, Rett Syndrome (diagnosis), Rett Syndrome (physiopathology), Rett syndrome, Stereotypy, dystonia, psychomotor retardation, motor stereotypies.
- 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
Affiliations:
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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</div></front></TEI><affiliations><list><country><li>France</li></country><settlement><li>Paris</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name></noRegion><name sortKey="Bienvenu, Thierry" sort="Bienvenu, Thierry" uniqKey="Bienvenu T" first="Thierry" last="Bienvenu">Thierry Bienvenu</name><name sortKey="Cochen, Valerie" sort="Cochen, Valerie" uniqKey="Cochen V" first="Valérie" last="Cochen">Valérie Cochen</name><name sortKey="Cochen, Valerie" sort="Cochen, Valerie" uniqKey="Cochen V" first="Valérie" last="Cochen">Valérie Cochen</name><name sortKey="Leu Emenescu, Smaranda" sort="Leu Emenescu, Smaranda" uniqKey="Leu Emenescu S" first="Smaranda" last="Leu-Semenescu">Smaranda Leu-Semenescu</name><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><name sortKey="Sangla, Sophie" sort="Sangla, Sophie" uniqKey="Sangla S" first="Sophie" last="Sangla">Sophie Sangla</name><name sortKey="Vidaihet, Marie" sort="Vidaihet, Marie" uniqKey="Vidaihet M" first="Marie" last="Vidaihet">Marie Vidaihet</name><name sortKey="Vidaihet, Marie" sort="Vidaihet, Marie" uniqKey="Vidaihet M" first="Marie" last="Vidaihet">Marie Vidaihet</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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