Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives

NCT00082615 | Completed

• 2 other identifiers: 04018804-N-0188
• Study Type: observational
• Target: 210
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Dystonia

Keywords

Movement Disorders; Recovery Cycle; Blink Reflex; Cervical Dystonia; Blepharospasm; Dystonia; Craniofacial Dystonia; Healthy Volunteer; HV

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients with idiopathic BSP or Meige-Syndrome (=BSP plus oromandibular dystonia), their first degree relatives and age matched volunteers
• Age18 years or older
• Eye blink rate at rest more than 27 per minute (patients only)

You may not qualify if:

• Patients, their first degree relatives and normal volunteers with any significant medical or psychiatric illness, pregnancy, history of epilepsy, concurrent use of tricyclic antidepressants, neuroleptic agents, or any other licit or illicit drug that could affect brainstem excitability will not be eligible for this study. Subjects who have a pacemaker, an implanted medication pump, metal objects inside the eye or skull (for example, after brain surgery or a shrapnel would) or any recent (less than 3 months) brain lesions will not be included in this study. Patients who have received botulinum toxin injection less than three months prior to the day of testing will also be excluded.
• Other disease with involuntary blinking (Hemifacial spasm, Tic disorder, Tardive Dyskinesia, Blepharitis)
• Taking the following medications: antidepressants, anxiolytics, anticonvulsants, antipsychotics, antiparkinson, hypnotics, stimulants, and/or antihistamines
• Subject's objection to being videotaped while performing different activities
• First degree relatives and age matched volunteers who are diagnosed with a neurological or psychiatric disease or medication that alter the blink frequency.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (1)

• Hallett M. Blepharospasm: recent advances. Neurology. 2002 Nov 12;59(9):1306-12. doi: 10.1212/01.wnl.0000027361.73814.0e.

  PMID: 12434791 BACKGROUND

MeSH Terms

Conditions

Dystonia; Movement Disorders; Torticollis; Blepharospasm

Condition Hierarchy (Ancestors)

Dyskinesias; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Central Nervous System Diseases; Eyelid Diseases; Eye Diseases

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: May 13, 2004
• First Posted: May 13, 2004
• Study Start: May 11, 2004
• Study Completion: April 21, 2008
• Last Updated: July 2, 2017

Record last verified: 2008-04-21

Locations

US (1)