Dystonia 1

Common Name(s)

Dystonia 1

'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance ({42:Muller and Kupke, 1990}; {44:Nemeth, 2002}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dystonia 1" for support, advocacy or research.

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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 1" returned 13 free, full-text research articles on human participants. First 3 results:

Brain Metabolic Changes of Cervical Dystonia with Spinocerebellar Ataxia Type 1 after Botulinum Toxin Therapy.
 

Author(s): Akio Kikuchi, Atsushi Takeda, Naoto Sugeno, Emiko Miura, Kazuhiro Kato, Takafumi Hasegawa, Toru Baba, Masatoshi Konno, Ryuji Oshima, Shoichi Watanuki, Kotaro Hiraoka, Manabu Tashiro, Masashi Aoki

Journal: Intern. Med.. 2016 ;55(14):1919-22.

 

We occasionally observe long-term remission of cervical dystonia after several botulinum toxin treatments. However, botulinum toxin transiently acts on neuromuscular junctions. We herein report that a cervical dystonia patient with spinocerebellar ataxia type 1 could have long-term ...

Last Updated: 19 Jul 2016

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Dysport and Botox at a ratio of 2.5:1 units in cervical dystonia: a double-blind, randomized study.
 

Author(s): Ji Young Yun, Jae Woo Kim, Hee-Tae Kim, Sun Ju Chung, Jong-Min Kim, Jin Whan Cho, Jee-Young Lee, Ha Neul Lee, Sooyeoun You, Eungseok Oh, Heejeong Jeong, Young Eun Kim, Han-Joon Kim, Won Yong Lee, Beom S Jeon

Journal: Mov. Disord.. 2015 Feb;30(2):206-13.

 

We aimed to compare Dysport (abobotulinumtoxinA, Ipsen Biopharm, Slough, UK) and Botox (onabotulinumtoxinA, Allergan, Irvine, CA, USA) at a 2.5:1 ratio in the treatment of cervical dystonia (CD). A Dysport/Botox ratio of lower than 3:1 was suggested as a more appropriate conversion ...

Last Updated: 4 Feb 2015

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Blood harmane (1-methyl-9H-pyrido[3,4-b]indole) concentration in dystonia cases vs. controls.
 

Author(s): Elan D Louis, Pam Factor-Litvak, Monika Michalec, Wendy Jiang, Wei Zheng

Journal: Neurotoxicology. 2014 Sep;44():110-3.

 

Harmane (1-methyl-9H-pyrido[3,4-b]indole) (HA) is a potent neurotoxin that has been linked to two neurological diseases, essential tremor and Parkinson's disease. Blood harmane concentrations [HA] are elevated in patients with both diseases. An important question is whether HA is ...

Last Updated: 24 Sep 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 1" returned 3 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, MichaƂ 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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Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children.
 

Author(s): Chang-Yong Tsao

Journal: J. Child Neurol.. 2012 Mar;27(3):389-91.

 

Guanine triphosphate (GTP)-cyclohydrolase 1 (GCH1)-deficient dopa-responsive dystonia is caused by GCH1 gene mutation. Two children presenting with frequent daily falling are reported with GCH1 gene mutations with persistent response to low-dose levodopa/carbidopa. Typical and atypical ...

Last Updated: 20 Mar 2012

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Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5).
 

Author(s): Masaya Segawa

Journal: Chang Gung Med J. ;32(1):1-11.

 

Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease) is an autosomal dominant dopa responsive dystonia caused by heterozygous mutation of the GCH 1 gene located on 14q22.1-q22.2. Although a number of mutations have been reported, the change remains highly ...

Last Updated: 18 Mar 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 31 Oct 2017

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WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation)
 

Status: Recruiting

Condition Summary: Severe Dystonia; Wilson's Disease

 

Last Updated: 30 Sep 2016

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