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Dystonia Coalition Projects

2019-11-13 17:56:52 | BioPortfolio

Summary

Dystonia is a disorder characterized by excessive involuntary contraction of muscles with repetitive and patterned movements. The primary focal dystonias are the most common type of dystonia and include Limb dystonias (like writer's cramp), Cervical dystonia (spasmodic torticollis), Laryngeal dystonias (like spasmodic dysphonia), and Craniofacial dystonias (like blepharospasm). The purpose of this study is to create resources to help learn more about the primary focal dystonias and to develop and validate various dystonia rating scales.

Description

This collaborative, international effort has two primary goals. The first is to create a biospecimen repository and associated clinical database to be used as a resource for dystonia and related disease research. The second goal is to create and validate various rating scales for focal dystonias to be used during a typical clinical examination. Across sites, the investigators hope to enroll at least 5,000 adult patients.

Subjects of this study will be asked to complete a neurological exam which will be videotaped, complete some questionnaires, and donate a blood sample. A study visit will take between 45 minutes and 1 hour depending upon which portions of the study a subject completes. A subset of subjects will be asked to return no more often than once a year for a one hour follow-up visit.

Study Design

Conditions

Dystonia

Intervention

Dystonia Coalition is an observational study.

Status

Terminated

Source

University of Texas Southwestern Medical Center

Results (where available)

View Results

Links

Published on BioPortfolio: 2019-11-13T17:56:52-0500

Clinical Trials [623 Associated Clinical Trials listed on BioPortfolio]

Fatigue in Dystonia (a Single Session, Questionnaire-based Study of Fatigue in Dystonia)

The purpose of this study is to determine how common fatigue and sleepiness are in patients with dystonia.

Humanitarian Device Exemption

The purpose of this study is to allow patients to undergo deep brain stimulation (DBS) surgery for the treatment of dystonia. This is NOT a research study, but rather, a requirement by th...

Agency in Dystonia

In this study, using computerized cognitive assessments combined with multi-modal neuroimaging approach investigators aim to address three specific questions on patients with cervical and ...

Amlodipine Plus Botulinum Toxin for Focal Dystonia

Objective: To determine if the calcium channel blockers, amlodipine can augment the effect of botulinum toxin injections in the treatment of focal dystonia. Study Population: 20 patien...

Dystonia Genotype-Phenotype Correlation

The purpose of this study is to (1) investigate the effect of known dystonia-causing mutations on brain structure and function, to (2) identify structural brain changes that differ between...

PubMed Articles [10503 Associated PubMed Articles listed on BioPortfolio]

High Prevalence of Dystonia in the Faroe Islands: A Population-Based Study.

There are fewer than 5 population-based studies of dystonia worldwide. Only one utilized a movement disorders neurologist. Given the potential for founder effects, and the highly genetic nature of dys...

Unilateral pallidotomy in the treatment of cervical dystonia: a retrospective observational study.

The objective of this study was to assess the efficacy of unilateral pallidotomy in patients with asymmetrical cervical dystonia.

Normal temporal discrimination in musician's dystonia is linked to aberrant sensorimotor processing.

Alterations in sensory discrimination are a prominent nonmotor feature of dystonia. Abnormal temporal discrimination in focal dystonia is considered to represent its mediational endophenotype, albeit ...

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Dystonia is a clinically and genetically heterogeneous disorder and a genetic cause is often difficult to elucidate. This is the first study to use whole genome sequencing (WGS) to investigate dystoni...

Dystonia and levodopa-induced dyskinesias in Parkinson's disease: Is there a connection?

Dystonia and levodopa-induced dyskinesia (LID) are both hyperkinetic movement disorders. Dystonia arises most often spontaneously, although it may be seen after stroke, injury, or as a result of genet...

Medical and Biotech [MESH] Definitions

Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.

An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)

A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)

A work that reports on the results of a clinical study in which participants may receive diagnostic, therapeutic, or other types of interventions, but the investigator does not assign participants to specific interventions (as in an interventional study).

A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM; forceful jaw opening; lip retraction; platysma muscle spasm; and tongue protrusion. It primarily affects older adults, with an incidence peak in the seventh decade of life. (From Adams et al., Principles of Neurology, 6th ed, p108)

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