Dystonias
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The dystonias are movement disorders in which
sustained muscle contractions cause twisting and repetitive
movements or abnormal postures. The movements, which are involuntary
and sometimes painful, may affect a single muscle; a group of
muscles such as those in the arms, legs, or neck; or the entire
body. Early symptoms may include a deterioration in handwriting
after writing several lines, foot cramps, and a tendency of one foot
to pull up or drag after running or walking some distance. Other
possible symptoms are tremor and voice or speech difficulties. Birth
injury (particularly due to lack of oxygen), certain infections,
reactions to certain drugs, heavy-metal or carbon monoxide
poisoning, trauma, or stroke can cause dystonic symptoms. About half
the cases of dystonia have no connection to disease or injury and
are called primary or idiopathic dystonia. Of the primary dystonias,
many cases appear to be inherited in a dominant manner. Dystonias
can also be symptoms of other diseases, some of which may be
hereditary. In some individuals, symptoms of a dystonia appear in
childhood between the ages of 5 and 16, usually in the foot or in
the hand. For other individuals, the symptoms emerge in late
adolescence or early adulthood.
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No one treatment has been found universally
effective. Instead, physicians use a variety of therapies
(medications, surgery and other treatments such as physical therapy,
splinting, stress management, and biofeedback), aimed at reducing or
eliminating muscle spasms and pain. Since response to drugs varies
among patients and even in the same person over time, the most
effective therapy is often individualized.
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The initial symptoms can be very mild and may be
noticeable only after prolonged exertion, stress, or fatigue. Over a
period of time, the symptoms may become more noticeable and
widespread and be unrelenting; sometimes, however, there is little
or no progression.
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Investigators believe that the dystonias result from an
abnormality in an area of the brain called the basal ganglia, where
some of the messages that initiate muscle contractions are
processed. Scientists suspect a defect in the body's ability to
process a group of chemicals called neurotransmitters that help
cells in the brain communicate with each other. Scientists at the
NINDS laboratories have conducted detailed investigations of the
pattern of muscle activity in persons with dystonias. Studies using
EEG analysis and neuroimaging are probing brain activity. The search
for the gene or genes responsible for some forms of dominantly
inherited dystonias continues. In 1989, a team of researchers mapped
a gene for early-onset torsion dystonia to chromosome 9; the gene
was subsequently named DYT1. In 1997, the team sequenced the DYT1
gene and found that it codes for a previously unknown protein now
called "torsin A."
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Dystonia Medical Research Foundation
National Spasmodic Torticollis Association
Worldwide Education & Awareness for Movement Disorders
American Speech Language Hearing Association
(ASHA)
Benign
Essential Blepharospasm Research Foundation
Bachmann-Strauss
Dystonia & Parkinson
Foundation
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