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

Pramipexole-induced limb dystonia and its associated complex regional pain syndrome in idiopathic Parkinson's disease: A case report.
 

Author(s): Donghwi Park

Journal: Medicine (Baltimore). 2017 Jul;96(28):e7530.

 

This case may be due to basal ganglia dysfunction, which was probably caused by abnormal activation of dopamine 1-like receptor (D1R) boosted by pramipexole binding on dopamine 3-like receptor (D3R) in a situation where D3R was overexpressed by the chronic treatment of L-dopa.

Last Updated: 12 Jul 2017

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Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
 

Author(s): Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Maciej Pronicki, Dariusz Rokicki, Małgorzata Rydzanicz, Rafał Płoski, Ewa Pronicka

Journal: Folia Neuropathol. 2016 ;54(4):405-409.

 

Pathogenic molecular variants in the ADAR gene are a known cause of rare diseases, autosomal recessive Aicardi- Goutières syndrome type 6, severe infantile encephalopathy with intracranial calcifications and dominant dyschromatosis symmetrica hereditaria, demonstrated mainly in Asian ...

Last Updated: 31 Jan 2017

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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
 

Author(s): Yair Anikster, Tobias B Haack, Thierry Vilboux, Ben Pode-Shakked, Beat Thöny, Nan Shen, Virginia Guarani, Thomas Meissner, Ertan Mayatepek, Friedrich K Trefz, Dina Marek-Yagel, Aurora Martinez, Edward L Huttlin, Joao A Paulo, Riccardo Berutti, Jean-François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval Landau, Limor Ziv-Strasser, May Christine V Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M Strom, Thomas Meitinger, James C Mullikin, Gerard Schwartz, Bruria Ben-Zeev, William A Gahl, J Wade Harper, Nenad Blau, Georg F Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff

Journal: Am. J. Hum. Genet.. 2017 Feb;100(2):257-266.

 

Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion ...

Last Updated: 30 Jan 2017

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

Understanding dystonia: diagnostic issues and how to overcome them.
 

Author(s): Sarah Camargos, Francisco Cardoso

Journal: Arq Neuropsiquiatr. 2016 Nov;74(11):921-936.

 

The diagnosis and treatment of dystonia are challenging. This is likely due to gaps in the complete understanding of its pathophysiology, lack of animal models for translational studies, absence of a consistent pathological substrate and highly variable phenotypes and genotypes. The ...

Last Updated: 30 Nov 2016

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Behavioural interventions for people living with adult-onset primary dystonia: a systematic review.
 

Author(s): C J Bernstein, D R Ellard, G Davies, E Hertenstein, N K Y Tang, M Underwood, H Sandhu

Journal:

 

Primary dystonia is a chronic neurological movement disorder that causes abnormal muscle movements. Pain and emotional distress may accompany these physical symptoms. Behavioural interventions are used to help people with long term conditions improve their quality of life. Little ...

Last Updated: 22 Mar 2016

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Deep brain stimulation for dystonia: review of the literature.
 

Author(s): Hubertus M Mehdorn

Journal: J Neurosurg Sci. 2016 Jun;60(2):199-210.

 

Deep brain stimulation (DBS) has become one of the major therapy options for movement disorders including dystonia. This article should give a review of the current literature from a neurosurgical perspective. Since dystonia is a rare disease, only few studies on larger cohorts have ...

Last Updated: 6 May 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 14 Sep 2016

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Effect of Increasing Motor Cortex Inhibition on Task Specific Dystonia
 

Status: Recruiting

Condition Summary: Dystonia

 

Last Updated: 30 Jan 2017

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Transcranial Direct-Current Stimulation in Childhood Dystonia
 

Status: Recruiting

Condition Summary: Childhood Onset Dystonias

 

Last Updated: 20 May 2014

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