Rett syndrome: An overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
✍ Scribed by Emmanuel Roze; Valérie Cochen; Sophie Sangla; Thierry Bienvenu; Anne Roubergue; Smaranda Leu-Semenescu; Marie Vidaihet
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 58 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
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