Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
E Roze, V Cochen, S Sangla… - … : official journal of the …, 2007 - Wiley Online Library
E Roze, V Cochen, S Sangla, T Bienvenu, A Roubergue, S Leu‐Semenescu, M Vidaihet
Movement disorders: official journal of the Movement Disorder Society, 2007•Wiley Online LibraryRett 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 …
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 …
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
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