Rett syndrome: An overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia? | Zendy

Roze Emmanuel | Zendy; Cochen Valérie | Zendy; Sangla Sophie | Zendy; Bienvenu Thierry | Zendy; Roubergue Anne | Zendy; LeuSemenescu Smaranda | Zendy; Vidaihet Marie | Zendy

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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

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