Dystonia 18

Common Name(s)

Dystonia 18

GLUT1 deficiency syndrome-2 is an autosomal dominant disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy, with an average onset of about 2 to 3 years. Mild mental retardation may also occur. One family has been reported with the additional feature of hemolytic anemia ({17:Weber et al., 2008}). GLUT1 deficiency syndrome-2 shows wide clinical variability both within and between affected families. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT1 deficiency syndrome-1 ({606777}) represents the more severe end of the phenotypic spectrum. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement in motor and seizure symptoms (reviews by {8:Pascual et al., 2004} and {1:Brockmann, 2009}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dystonia 18" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dystonia 18" returned 1 free, full-text research articles on human participants. First 3 results:

Prominent 5-18 Hz oscillations in the pallidal-thalamic circuit in secondary dystonia.
 

Author(s): E W Tsang, C Hamani, E Moro, F Mazzella, A M Lozano, I J Yeh, R Chen

Journal: Neurology. 2012 Jan;78(5):361-3.

 

Last Updated: 31 Dec 1969

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The terms "Dystonia 18" returned 0 free, full-text review articles on human participants.

 
 
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