Dystonia in the Woodhouse Sakati syndrome: A new family and literature review
Identifieur interne : 002890 ( Main/Exploration ); précédent : 002889; suivant : 002891Dystonia in the Woodhouse Sakati syndrome: A new family and literature review
Auteurs : Susanne A. Schneider [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-03-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Diabète.
English descriptors
- KwdEn :
- Adult, Alopecia, Alopecia (complications), Basal Ganglia Diseases (complications), Brain (pathology), Diabetes Complications (complications), Diabetes mellitus, Dystonia, Dystonia (complications), Dystonia (genetics), Dystonia (physiopathology), Hair, Hearing Loss, Sensorineural (complications), Hearing loss, Humans, Hypogonadism, Hypogonadism (complications), Intellectual Disability (complications), Magnetic Resonance Imaging, Male, Mental retardation, Nervous system diseases, Neurosecretory Systems (pathology), Neurosecretory Systems (physiopathology), Pedigree, Syndrome, Woodhouse Sakati syndrome, alopecia, deafness, diabetes mellitus, dystonia, hypogonadism, mental retardation.
- MESH :
- complications : Alopecia, Basal Ganglia Diseases, Diabetes Complications, Dystonia, Hearing Loss, Sensorineural, Hypogonadism, Intellectual Disability.
- genetics : Dystonia.
- pathology : Brain, Neurosecretory Systems.
- physiopathology : Dystonia, Neurosecretory Systems.
- Adult, Humans, Magnetic Resonance Imaging, Male, Pedigree, Syndrome.
Abstract
Woodhouse Sakati syndrome is a rare autosomal recessive neuroendocrine disorder characterized by the combination of alopecia, hypogonadism, diabetes mellitus, mental retardation, sensory neural deafness and extrapyramidal features. Movement disorders mainly consist of dystonia and chorea of the limbs with onset in adolescence. Facial muscles are usually spared, but dysarthria is common. Pyramidal features and peripheral abnormalities are inconsistent features. Most of the reported families are from the Middle Eastern countries although rarely Caucasian cases have been described. Here we present clinical details of two affected siblings from a new Middle East family and draw attention of movement disorder specialists to this entity. We summarize findings from pervious cases with particular focus on neurological and movement disorder features. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21886
Affiliations:
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Le document en format XML
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Movement disorders mainly consist of dystonia and chorea of the limbs with onset in adolescence. Facial muscles are usually spared, but dysarthria is common. Pyramidal features and peripheral abnormalities are inconsistent features. Most of the reported families are from the Middle Eastern countries although rarely Caucasian cases have been described. Here we present clinical details of two affected siblings from a new Middle East family and draw attention of movement disorder specialists to this entity. 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