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Advances/Research
Genetic Study
of Dystonia
| Principal Investigator: | Susan Bressman, M.D. | |
| Co-Investigators: | Deborah Raymond M.S., Rachel Saunders-Pullman, M.D. |
|
| Time frame of study: | Ongoing | |
| Time frame of participation: | 3 years | |
| Number of participants needed: | Open | |
| Location of Study: | Movement Disorders Research
Center Beth Israel Medical Center 10 Union Square East, Suite 5H New York, NY 10003 |
|
| Contact Name, Number & Email: | Monica Sethi at 1-888-228-1688 (toll-free), msethi@chpnet.org |
Summary:
Dystonia is a neurological disorder that results in involuntary muscle
contractions. These movements may have a twisting or turning quality and
may involve one body part (focal dystonia) or multiple body parts (generalized
dystonia). Dystonia may be manifested as eye closing (blepharospasm),
head turning or tilting (spasmodic torticollis), writer's cramp, laryngeal
dystonia (spasmodic dysphonia), lower facial dystonia (oromandibular dystonia),
or cranial-facial dystonia (Meige syndrome). The early onset form of dystonia
is referred to as DYT1. Non-DYT1 forms of dystonia, in general, are due
to changes in genes other than the DYT1 gene that have yet to be identified.
The goal of our genetic study is to identify the gene or genes that cause
non-DYT1 forms of dystonia. We also hope to uncover differences in how
these genes are expressed in families and to better understand why some
gene carriers do not manifest symptoms of dystonia.
Eligibility:
We are searching for families with two or more living relatives with dystonia
to participate in our NIH funded research study. Participation involves
a brief physical exam, a blood sample, and an interview about your health
and medical history. This national research study does not require travel
to New York. A phone interview and blood sample collection can be arranged
at a time and place convenient for participants. There is no cost to you
or your family for participating.
Duration:
Our study will continue for an indefinite length of time, and participants
will be updated periodically on our progress as we search for the genes
that cause non-DYT1 forms of dystonia.
Benefits and/or
Compensation::
Participants will not receive personal results from our study. However,
their participation will benefit many families affected by the disease.
Research to identify the genes causing dystonia will lead us to better
genetic testing, counseling, and treatment for this condition and may
even result in an eventual cure.