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 ({40:Muller and Kupke, 1990}; {42:Nemeth, 2002}). See also DYT2 ({224500}) for reports of a similar disorder that shows autosomal recessive inheritance.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 1" returned 9 free, full-text research articles on human participants. First 3 results:

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.
 

Author(s): Gertraud Engl, Stefan Florian, Lisbeth Tranebjærg, Doron Rapaport

Journal: Hum. Mol. Genet.. 2012 Jan;21(2):287-99.

 

Deafness-Dystonia-Optic Neuropathy (DDON) Syndrome is a rare X-linked progressive neurodegenerative disorder resulting from mutations in the TIMM8A gene encoding for the deafness dystonia protein 1 (DDP1). Despite important progress in identifying and characterizing novel mutations ...

Last Updated: 28 Dec 2011

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[GTP cyclohydrolase 1-deficient dopa-responsive hereditary dystonia].
 

Author(s): M D Teva Galán, V Esteban Cantó, N Picó Alfonso, J Jover Cerdá

Journal: An Pediatr (Barc). 2011 Jul;75(1):55-7.

 

GTP cyclohydrolase 1-deficient dopa- responsive dystonia is an autosomal dominant disorder caused by mutations in the guanosine triphospate (GTP) cyclohydrolase 1 gene (GTP-CH1) with incomplete penetrance. This gene is involved in the synthesis of dopamine. It is the dystonia with ...

Last Updated: 22 Jun 2011

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Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family.
 

Author(s): C P Souza, E R Valadares, A L C Trindade, V L Rocha, L R Oliveira, A L B Godard

Journal:

 

Dopa-responsive dystonia (DRD), also known as Segawa syndrome or hereditary progressive dystonia with diurnal fluctuation, is clinically characterized by the occurrence of simultaneous or late Parkinsonism and by an excellent response to treatment with low doses of L-dopa. Diagnosis ...

Last Updated: 28 Aug 2008

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

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

Neuroimaging of Dystonia
 

Status: Not yet recruiting

Condition Summary: Primary Cervical Dystonia; DYT 1 Dystonia

 

Last Updated: 24 Mar 2014

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Can Short Latency Afferent Inhibition Give us Clues to Better DYT 1 Dystonia Treatments?
 

Status: Recruiting

Condition Summary: DYT-1; DYT1; DYT 1; Dystonia

 

Last Updated: 24 Mar 2014

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Ampicillin for DYT-1 Dystonia Motor Symptoms
 

Status: Recruiting

Condition Summary: DYT-1; Dystonia

 

Last Updated: 22 Nov 2013

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