Torsion dystonia

Common Name(s)

Torsion dystonia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Torsion dystonia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "Torsion dystonia" returned 38 free, full-text research articles on human participants. First 3 results:

Mutations in GNAL cause primary torsion dystonia.
 

Author(s): Tania Fuchs, Rachel Saunders-Pullman, Ikuo Masuho, Marta San Luciano, Deborah Raymond, Stewart Factor, Anthony E Lang, Tsao-Wei Liang, Richard M Trosch, Sierra White, Edmond Ainehsazan, Denis Hervé, Nutan Sharma, Michelle E Ehrlich, Kirill A Martemyanov, Susan B Bressman, Laurie J Ozelius

Journal: Nat. Genet.. 2013 Jan;45(1):88-92.

 

Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. Its molecular pathophysiology is poorly understood, in part owing to limited knowledge of the genetic basis of the disorder. Only three genes for primary torsion dystonia (PTD), ...

Last Updated: 26 Dec 2012

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Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.
 

Author(s): Okka Kimmich, David Bradley, Robert Whelan, Nicola Mulrooney, Richard B Reilly, Siobhan Hutchinson, Sean O'Riordan, Michael Hutchinson

Journal: Brain. 2011 Sep;134(Pt 9):2656-63.

 

Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which ...

Last Updated: 12 Sep 2011

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The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.
 

Author(s): Pan Chen, Alexander J Burdette, J Christopher Porter, John C Ricketts, Stacey A Fox, Flavia C Nery, Jeffrey W Hewett, Laura A Berkowitz, Xandra O Breakefield, Kim A Caldwell, Guy A Caldwell

Journal: Hum. Mol. Genet.. 2010 Sep;19(18):3502-15.

 

Early-onset torsion dystonia is the most severe heritable form of dystonia, a human movement disorder that typically starts during a developmental window in early adolescence. Deletion in the DYT1 gene, encoding the torsinA protein, is responsible for this dominantly inherited disorder, ...

Last Updated: 26 Aug 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Torsion dystonia" returned 5 free, full-text review articles on human participants. First 3 results:

Genetic and clinical features of primary torsion dystonia.
 

Author(s): Laurie J Ozelius, Susan B Bressman

Journal: Neurobiol. Dis.. 2011 May;42(2):127-35.

 

Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for ...

Last Updated: 22 Mar 2011

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Early onset torsion dystonia (Oppenheim's dystonia).
 

Author(s): Christoph Kamm

Journal:

 

Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. A US study estimated the prevalence at approximately 1 in 30,000. The estimated prevalence in ...

Last Updated: 12 Dec 2006

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TorsinA and torsion dystonia: Unraveling the architecture of the nuclear envelope.
 

Author(s): Larry Gerace

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2004 Jun;101(24):8839-40.

 

Last Updated: 16 Jun 2004

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.