Dystonia

Common Name(s)

Dystonia

Dystonia is a condition that causes your muscles to spontaneously contract, or movement without control. Examples include: uncontrolled blinking, repetitive twisting of your head, and voice changes (e.g. whispering or soft voice). Dystonia can be caused by dysfunction in nerve cell communication, or the way your brain communicates with your muscles, as well as other disease such as Parkinson's disorder, Huntington's disease, strokes, brain tumors. Side effects of dystonia include pain, difficulty with jaw movement or functional blindness. Treatment for dystonia can include oral medications, physical therapy,speech therapy, brain stimulation. There are also alternative medicine options such as yoga, meditation, pilates that can be done at home.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Dystonia Medical Research Foundation

The mission of the DMRF is to advance research for more effective treatments and ultimately a cure for dystonia, to promote awareness and education, and to support the well being of dystonia affected individuals and families.

Last Updated: 29 Oct 2012

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Movement Disorder Society

The Movement Disorder Society (MDS) is an international professional society of clinicians, scientists, and other healthcare professionals, who are interested in Parkinson's disease, related neurodegenerative and neurodevelopmental disorders, hyperkinetic movement disorders, and abnormalities in muscle tone and motor control.

Last Updated: 5 May 2014

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National Spasmodic Dysphonia Association

The mission of the National Spasmodic Dysphonia Association is to advance medical research into the causes of and treatments for spasmodic dysphonia, promote physician and public awareness of the disorder, and provide support to those affected by spasmodic dysphonia.

Last Updated: 9 Nov 2012

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The Bachmann-Strauss Dystonia & Parkinson Foundation

The Bachmann-Strauss Dystonia & Parkinson Foundation was established in 1995 to find better treatments and cures for the movement disorders dystonia and Parkinson's disease and to provide medical and patient information.

Last Updated: 15 Feb 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Dystonia Medical Research Foundation

The mission of the DMRF is to advance research for more effective treatments and ultimately a cure for dystonia, to promote awareness and education, and to support the well being of dystonia affected individuals and families.

http://www.dystonia-foundation.org

Last Updated: 29 Oct 2012

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Movement Disorder Society

The Movement Disorder Society (MDS) is an international professional society of clinicians, scientists, and other healthcare professionals, who are interested in Parkinson's disease, related neurodegenerative and neurodevelopmental disorders, hyperkinetic movement disorders, and abnormalities in muscle tone and motor control.

http://www.movementdisorders.org/MDS.htm

Last Updated: 5 May 2014

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National Spasmodic Dysphonia Association

The mission of the National Spasmodic Dysphonia Association is to advance medical research into the causes of and treatments for spasmodic dysphonia, promote physician and public awareness of the disorder, and provide support to those affected by spasmodic dysphonia.

http://www.dysphonia.org/

Last Updated: 9 Nov 2012

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The Bachmann-Strauss Dystonia & Parkinson Foundation

The Bachmann-Strauss Dystonia & Parkinson Foundation was established in 1995 to find better treatments and cures for the movement disorders dystonia and Parkinson's disease and to provide medical and patient information.

https://www.dystonia-parkinson.org

Last Updated: 15 Feb 2013

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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 "Dystonia" returned 790 free, full-text research articles on human participants. First 3 results:

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.
 

Author(s): Zuchra Zakirova, Tomas Fanutza, Justine Bonet, Ben Readhead, Weijia Zhang, Zhengzi Yi, Genevieve Beauvais, Thomas P Zwaka, Laurie J Ozelius, Robert D Blitzer, Pedro Gonzalez-Alegre, Michelle E Ehrlich

Journal:

 

Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways. Mutations in THAP1 [THAP (Thanatos-associated protein) domain containing, ...

Last Updated: 31 Dec 1969

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Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in .
 

Author(s): D Cristopher Bragg, Kotchaphorn Mangkalaphiban, Christine A Vaine, Nichita J Kulkarni, David Shin, Rachita Yadav, Jyotsna Dhakal, Mai-Linh Ton, Anne Cheng, Christopher T Russo, Mark Ang, Patrick Acuña, Criscely Go, Taylor N Franceour, Trisha Multhaupt-Buell, Naoto Ito, Ulrich Müller, William T Hendriks, Xandra O Breakefield, Nutan Sharma, Laurie J Ozelius

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2017 12;114(51):E11020-E11028.

 

X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of This unique insertion coincides with six additional noncoding sequence changes in , the gene that encodes TATA-binding ...

Last Updated: 31 Dec 1969

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Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
 

Author(s): Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal K Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Saskia B Wortmann

Journal: Ann. Neurol.. 2017 Dec;82(6):1004-1015.

 

3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.

Last Updated: 31 Dec 1969

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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 "Dystonia" returned 118 free, full-text review articles on human participants. First 3 results:

The Anatomical Basis for Dystonia: The Motor Network Model.
 

Author(s): H A Jinnah, Vladimir Neychev, Ellen J Hess

Journal:

 

The dystonias include a clinically and etiologically very diverse group of disorders. There are both degenerative and non-degenerative subtypes resulting from genetic or acquired causes. Traditionally, all dystonias have been viewed as disorders of the basal ganglia. However, there ...

Last Updated: 31 Dec 1969

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Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta-analysis.
 

Author(s): E Moro, C LeReun, J K Krauss, A Albanese, J-P Lin, S Walleser Autiero, T C Brionne, M Vidailhet

Journal: Eur. J. Neurol.. 2017 04;24(4):552-560.

 

The aim of this review was to provide strong clinical evidence of the efficacy of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in isolated inherited or idiopathic dystonia. Eligible studies were identified after a systematic literature review of the effects of ...

Last Updated: 31 Dec 1969

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Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.
 

Author(s): H A Jinnah, Ron Alterman, Christine Klein, Joachim K Krauss, Elena Moro, Marie Vidailhet, Robert Raike

Journal: J Neural Transm (Vienna). 2017 Apr;124(4):417-430.

 

The dystonias are a group of disorders characterized by excessive muscle contractions leading to abnormal movements and postures. There are many different clinical manifestations and underlying causes. Deep brain stimulation (DBS) provides an effect treatment, but outcomes can vary ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 29 Sep 2017

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Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias
 

Status: Not yet recruiting

Condition Summary: Dystonia

 

Last Updated: 27 Mar 2018

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Exercise Training in Dystonia
 

Status: Recruiting

Condition Summary: Dystonia

 

Last Updated: 19 Dec 2017

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