NIH Clinical Research Studies

Protocol Number: 04-N-0188

Active Accrual, Protocols Recruiting New Patients

Title:
Neurophysiological Markers in Patients with Craniofacial Dystonia and Their Relatives
Number:
04-N-0188
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.

Sponsoring Institute:
National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): Children

Eligibility Criteria:
INCLUSION CRITERIA:

Three groups of subjects shall be studied: 1) patients with craniofacial dystonia, 2) first degree relatives of patients with craniofacial dystonia, 3) age matched control group. The inclusion of the group of relatives will be valuable to study, as these individuals have shared similar environment backgrounds as patients but remain free of symptoms. Patients and their relatives 18 years or older will be enrolled through the Human Motor Control Clinic, NINDS, NIH under protocol 93-N-0202: "Diagnosis and Natural History Protocol for Patients with Different Neurological Conditions". Patients with dystonia who have received botulinum toxin injection more than three months prior to the day of testing and enrolled in Protocol 85-N-0195, "efficacy and Pathophysiology of Botulinum Toxin for Treatment of Involuntary Movement Disorders' will also be eligible for participation in the study. Diagnosis of dystonia will rely on review of medical record, history, and clinical evaluation. Healthy volunteers over 18 years-old entered into the study must be free of neurological disease as determined by a standard physical and neurological examination.

EXCLUSION CRITERIA:

Patients, their first degree relatives and normal volunteers with any significant medical or psychiatric illness, 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.

Special Instructions: Currently Not Provided
Keywords:
Movement Disorders
Recovery Cycle
Blink Reflex
Cervical Dystonia
Blepharospasm
Recruitment Keywords:
Dystonia
Craniofacial Dystonia
Healthy Volunteer
HV
Conditions:
Dystonia
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:
Fahn S. Concept and classification of dystonia. Adv Neurol. 1988;50:1-8. Review. No abstract available. PMID: 3041755

Nutt JG, Muenter MD, Melton LJ 3rd, Aronson A, Kurland LT.

Epidemiology of dystonia in Rochester, Minnesota. Adv Neurol. 1988;50:361-5. No abstract available. PMID: 3400496

Hallett M. Blepharospasm: recent advances. Neurology. 2002 Nov 12;59(9):1306-12. Review. PMID: 12434791

Active Accrual, Protocols Recruiting New Patients

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