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Rett syndrome: An overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Author(s) -
Roze Emmanuel,
Cochen Valérie,
Sangla Sophie,
Bienvenu Thierry,
Roubergue Anne,
LeuSemenescu Smaranda,
Vidaihet Marie
Publication year - 2007
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21276
Subject(s) - rett syndrome , parkinsonism , psychomotor learning , dystonia , movement disorders , pediatrics , psychomotor retardation , etiology , psychology , medicine , psychomotor disorder , neurological disorder , psychiatry , central nervous system disease , neuroscience , cognition , disease , pathology , biochemistry , chemistry , alternative medicine , gene
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