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

The physical, social and emotional aspects are the most affected in the quality of life of the patients with cervical dystonia.
 

Author(s): Roberta Weber Werle, Sibele Yoko Mattozo Takeda, Marise Bueno Zonta, Ana Tereza Bittencourt Guimarães, Hélio Afonso Ghizoni Teive

Journal: Arq Neuropsiquiatr. 2014 Jun;72(6):405-10.

 

Describe the functional, clinical and quality of life (QoL) profiles in patients with cervical dystonia (CD) with residual effect or without effect of botulinum toxin (BTX), as well as verify the existence of correlation between the level of motor impairment, pain and QoL.

Last Updated: 26 Jun 2014

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Twisting mice move the dystonia field forward.
 

Author(s): Asa Petersén, Deniz Kirik

Journal: J. Clin. Invest.. 2014 Jul;124(7):2848-50.

 

A common form of the hyperkinetic movement disorder dystonia is caused by mutations in the gene TOR1A (located within the DYT1 locus), which encodes the ATPase torsinA. The underlying neurobiological mechanisms that result in dystonia are poorly understood, and progress in the field ...

Last Updated: 3 Jul 2014

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Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
 

Author(s): Agnete Fossbakk, Rune Kleppe, Per M Knappskog, Aurora Martinez, Jan Haavik

Journal: Hum. Mutat.. 2014 Jul;35(7):880-90.

 

Congenital tyrosine hydroxylase deficiency (THD) is found in autosomal-recessive Dopa-responsive dystonia and related neurological syndromes. The clinical manifestations of THD are variable, ranging from early-onset lethal disease to mild Parkinson disease-like symptoms appearing ...

Last Updated: 11 Jun 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 79 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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Systematic review and meta-analysis of the duration of clinical effect of onabotulinumtoxinA in cervical dystonia.
 

Author(s): Wallace A Marsh, Deirdre M Monroe, Mitchell F Brin, Conor J Gallagher

Journal:

 

Botulinum toxins are considered first-line therapy for treatment of cervical dystonia (CD) and must be injected on a repeat basis. Understanding the duration of clinical benefit of botulinum toxins and its impact on health care utilization are thus important in the contemporary environment. ...

Last Updated: 3 Jun 2014

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Designing clinical trials for dystonia.
 

Author(s): Wendy R Galpern, Christopher S Coffey, Alberto Albanese, Ken Cheung, Cynthia L Comella, Dixie J Ecklund, Stanley Fahn, Joseph Jankovic, Karl Kieburtz, Anthony E Lang, Michael P McDermott, Jeremy M Shefner, Jan K Teller, John L P Thompson, Sharon D Yeatts, H A Jinnah

Journal: Neurotherapeutics. 2014 Jan;11(1):117-27.

 

With advances in the understanding of the pathophysiology of dystonia, novel therapeutics are being developed. Such therapies will require clinical investigation ranging from exploratory studies to examine safety, tolerability, dosage selection, and preliminary efficacy to confirmatory ...

Last Updated: 23 Jan 2014

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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

Comparison of Electrophysiologic and Ultrasound Guidance for Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia and Spasticity
 

Status: Recruiting

Condition Summary: Dystonia; Focal Dystonia; Musician's Dystonia; Muscle Spasticity

 

Last Updated: 24 Dec 2014

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Neuroimaging of Dystonia
 

Status: Recruiting

Condition Summary: Primary Cervical Dystonia; DYT 1 Dystonia

 

Last Updated: 8 Jan 2015

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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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