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 31 free, full-text research articles on human participants. First 3 results:

The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.
 

Author(s): Lucía F Zacchi, Hui-Chuan Wu, Samantha L Bell, Linda Millen, Adrienne W Paton, James C Paton, Philip J Thomas, Michal Zolkiewski, Jeffrey L Brodsky

Journal: J. Biol. Chem.. 2014 May;289(18):12727-47.

 

Early-onset torsion dystonia (EOTD) is a neurological disorder characterized by involuntary and sustained muscle contractions that can lead to paralysis and abnormal posture. EOTD is associated with the deletion of a glutamate (ΔE) in torsinA, an endoplasmic reticulum (ER) resident ...

Last Updated: 5 May 2014

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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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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 7 free, full-text review articles on human participants. First 3 results:

[Torsin 1A and the pathomechanism of torsion dystonia type 1].
 

Author(s): Marta Jurek, Michał Milewski

Journal: Postepy Biochem.. 2015 ;61(1):35-41.

 

Torsin 1A is a protein mutated in torsion dystonia type 1, a hereditary neurological disorder of early onset and variable clinical picture. The basic cellular function of torsin 1A, a polypeptide localized predominantly in the endoplasmic reticulum and nuclear envelope, remains unknown, ...

Last Updated: 17 Aug 2015

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Brain Stimulation for Torsion Dystonia.
 

Author(s): Michael D Fox, Ron L Alterman

Journal: JAMA Neurol. 2015 Jun;72(6):713-9.

 

Dystonia is a heterogeneous neurologic disorder characterized by abnormal muscle contractions for which standard medical therapy is often inadequate. For such patients, therapeutic brain stimulation is becoming increasingly used.

Last Updated: 9 Jun 2015

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.