Advertisement

Topics

Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives

2014-08-27 03:54:25 | BioPortfolio

Summary

This study will use a technique called blink reflex to study and compare how the brain controls muscle movement in patients with craniofacial dystonia, their first-degree relatives, and healthy, normal volunteers. People with dystonia have sustained muscle contractions that cause twisting and repetitive movements or abnormal postures. In focal dystonia, this happens in one area of the body, such as the hand, neck, or face.

Three groups of people may be eligible for this study: 1) patients 18 years of age and older with craniofacial dystonia; 2) first-degree relatives of patients with craniofacial dystonia; and 3) normal volunteers matched in age to the patients. Candidates are screened with physical and neurological examinations.

Participants undergo a blink reflex study. Patients with dystonia who are receiving botulinum toxin injections must stop the medication 3 months before participating in the study and must stop any other dystonia medications, such as benzodiazepines and anticholinergics, for 12 hours before the study. For the blink reflex procedure, subjects are seated in a comfortable chair with their hands placed on a pillow on their lap. Metal electrodes are taped to the forehead for delivering small electrical shocks that feel like very brief pinpricks. Subjects receive 25 to 50 electrical stimuli, some as single shocks and some in pairs. The electrical activity of muscles that respond to the stimuli is recorded with a computer. The study takes from about 1 to 2 hours.

Description

The objective of this study is to evaluate paired-pulse inhibition of the three responses of the electrically elicited blink reflex (BR) and the eye blink rate (EBR)in patients with craniofacial dystonia and their first degree relatives in order to determine whether abnormalities of inhibition can represent a marker of genetic predisposition for the development of dystonia. It is unclear why some relatives of patients with craniofacial dystonia do not develop dystonic symptoms. One possible explanation is that the development of dystonia is a two-stage process: first, loss of inhibition, which may be genetically determined, and second, exposure to an environmental trigger such as excessive repetitive movements. There is good evidence that focal dystonia is a genetically determined disorder, but the responsible gene remains undetermined. Patients, their first degree relatives and normal volunteers will undergo BR testing using validated electrophysiological tests of recovery cycle. The main outcome measure of the study is impaired inhibition in up to 50% of first degree relatives of patients with focal dystonia which would serve as biologic marker for the carrier state. A second outcome measure is the EBR. In those individuals with this genetic marker of impaired inhibition, future linkage analysis studies could be performed to identify the causative gene.

Study Design

N/A

Conditions

Dystonia

Location

National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda
Maryland
United States
20892

Status

Completed

Source

National Institutes of Health Clinical Center (CC)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:54:25-0400

Clinical Trials [105 Associated Clinical Trials listed on BioPortfolio]

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 ...

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.

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...

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...

PubMed Articles [81 Associated PubMed Articles listed on BioPortfolio]

Spread of dystonia in patients with idiopathic adult-onset laryngeal dystonia.

Adult onset laryngeal dystonia (LD) can be isolated or can be associated to dystonia in other body parts. Combined forms can be segmental at the onset or can result from dystonia spread to or from lar...

Phenytoin induced dystonia.

Acar T, Alkan G, Çaksen H, Ertekin B, Ergin M, Koçak S, Cander B. Phenytoin induced dystonia. Turk J Pediatr 2018; 60: 111-112. The abnormalities of dopaminergic activity in the basal ganglia have b...

Dystonia as a network disorder: a concept in evolution.

This survey takes into consideration the most recent advances in both human degenerative ataxias, disorders with a well established cerebellar origin, and discoveries from dystonia rodent models aimed...

Both DBS and Thalamotomy in a 13-year-old Patient with Primary Dystonia: A Case Report.

Primary dystonia is a neurological disease with the characteristics of abnormal, involuntary twisting and turning movements, which greatly affects life quality of patients. Treatments for dystonia con...

Low Voice, Spasmodic Dysphonia, and Hand Dystonia as Clinical Clues for KMT2B-Associated Early-Onset Dystonia.

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 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)

A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)

More From BioPortfolio on "Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topics

Alzheimer's Disease
Of all the types of Dementia, Alzheimer's disease is the most common, affecting around 465,000 people in the UK. Neurons in the brain die, becuase  'plaques' and 'tangles' (mis-folded proteins) form in the brain. People with Al...

Rheumatology
Arthritis Fibromyalgia Gout Lupus Rheumatic Rheumatology is the medical specialty concerned with the diagnosis and management of disease involving joints, tendons, muscles, ligaments and associated structures (Oxford Medical Diction...

Nutrition
Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...


Searches Linking to this Trial