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

Cervical dystonia: about familial and sporadic cases in 88 patients.
 

Author(s): Carlos Henrique F Camargo, Sarah Teixeira Camargos, Nilson Becker, Renato Puppi Munhoz, Salmo Raskin, Francisco Eduardo C Cardoso, Hélio Afonso G Teive

Journal: Arq Neuropsiquiatr. 2014 Feb;72(2):107-13.

 

Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight ...

Last Updated: 7 Mar 2014

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ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.
 

Author(s): Una-Marie Sheerin, Susanne A Schneider, Lucinda Carr, Guenther Deuschl, Franziska Hopfner, Maria Stamelou, Nicholas W Wood, Kailash P Bhatia

Journal: Neurology. 2014 Mar;82(12):1065-7.

 

To determine the genetic etiology in 2 consanguineous families who presented a novel phenotype of autosomal recessive juvenile amyotrophic lateral sclerosis associated with generalized dystonia.

Last Updated: 25 Mar 2014

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Mutations in GNAL: a novel cause of craniocervical dystonia.
 

Author(s): Kishore R Kumar, Katja Lohmann, Ikuo Masuho, Ryosuke Miyamoto, Andreas Ferbert, Thora Lohnau, Meike Kasten, Johann Hagenah, Norbert Brüggemann, Julia Graf, Alexander Münchau, Vladimir S Kostic, Carolyn M Sue, Aloysius R Domingo, Raymond L Rosales, Lilian V Lee, Karen Freimann, Ana Westenberger, Youhei Mukai, Toshitaka Kawarai, Ryuji Kaji, Christine Klein, Kirill A Martemyanov, Alexander Schmidt

Journal: JAMA Neurol. 2014 Apr;71(4):490-4.

 

Mutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Gαolf) is important for dopamine D1 receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL in 461 patients from Germany, Serbia, and Japan, ...

Last Updated: 15 Apr 2014

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

Clinical spectrum of dopa-responsive dystonia and related disorders.
 

Author(s): Woong-Woo Lee, Beom Seok Jeon

Journal: Curr Neurol Neurosci Rep. 2014 Jul;14(7):461.

 

Dopa-responsive dystonia (DRD) has a classic presentation of childhood or adolescent-onset dystonia, mild parkinsonism, marked diurnal fluctuations, improvement with sleep or rest, and a dramatic and sustained response to low doses of L-dopa without motor fluctuations or dyskinesias. ...

Last Updated: 21 May 2014

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Genetics in dystonia: an update.
 

Author(s): Tania Fuchs, Laurie J Ozelius

Journal: Curr Neurol Neurosci Rep. 2013 Dec;13(12):410.

 

The past year has been extremely successful with regard to the genetics of dystonia, with the identification of four new dystonia genes (CIZ1, ANO3, GNAL, and TUBB4A). This progress was primarily achieved because of the application of a new technology, next-generation DNA sequencing, ...

Last Updated: 18 Oct 2013

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Understanding the anatomy of dystonia: determinants of penetrance and phenotype.
 

Author(s): Renata P Lerner, Martin Niethammer, David Eidelberg

Journal: Curr Neurol Neurosci Rep. 2013 Nov;13(11):401.

 

The dystonias comprise a group of syndromes characterized by prolonged involuntary muscle contractions resulting in repetitive movements and abnormal postures. Primary dystonia has been associated with over 14 different genotypes, most of which follow an autosomal dominant inheritance ...

Last Updated: 11 Oct 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neuroimaging of Dystonia
 

Status: Recruiting

Condition Summary: Primary Cervical Dystonia; DYT 1 Dystonia

 

Last Updated: 20 May 2014

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Efficacy of Levetiracetam in Oromandibular and Cranial Dystonia
 

Status: Recruiting

Condition Summary: Oromandibular Dystonia; Cranial Dystonia

 

Last Updated: 15 Oct 2014

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Somatosensory Processing in Focal Hand Dystonia
 

Status: Recruiting

Condition Summary: Focal Hand Dystonia; Musician's Dystonia; Writer's Cramp; Dystonic Cramp

 

Last Updated: 19 Dec 2007

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