To many people, sometimes even experienced doctors, the involuntary movements, limited mobility, abnormal muscular postures, and verbal tremors that are symptomatic of dystonia simply point to other neuromuscular disorders, such as
. To make matters more confusing, dystonia is not just one medical condition, but a group of movement disorders that affect either a single muscle or group of muscles primarily in the arms, legs, or neck.
A Collection of Disorders
Several distinct patterns of dystonia fall under the dystonia movement disorders umbrella. Symptoms generally involve:
- Involuntary, long-lasting muscle contractions causing twisting, abnormal postures, or repetitive movements of a particular part of the body
- Occasionally, movement is affected throughout the entire body
- Speech problems, tremor, or uncontrollable eye blinking may occur
In early-onset dystonia, symptoms first appear around age 12, usually in an arm or a leg. Dystonia can spread, affecting other parts of the body. For others, dystonia symptoms emerge in late adolescence or early adulthood. The older a person is when symptoms appear, the more likely dystonia will remain limited to a particular area.
Research has found advocates from among one affected group—musicians. Because of the nature of their work, musicians are among the first to notice abnormal muscular changes when practicing or performing. One such performer, Leon Fleisher, a world-class touring pianist, was forced into retirement at the age of 36 when a very localized dystonia claimed the use of his right hand. He only returned to professional, two-handed piano play in 2003 after decades of misdiagnosis and failed treatments. His performance career was renewed after a drug treatment restored his fingers to their full, extended length.
What Causes It?
The gene DYT1 on chromosome nine appears to be linked to early-onset dystonia. DYT1 is responsible for making a damaging protein—torsin A. The protein interferes with the brain’s ability to process a group of brain chemicals called neurotransmitters. These chemicals needed for normal muscle contraction include GABA (gamma-aminobutyric acid), dopamine, acetylcholine, norepinephrine, and serotonin. Other less common gene mutations have also been linked to dystonia.
Other forms of dystonia are linked with injury,
, or environmental triggers, such as lack of oxygen during birth, certain infections, reactions to certain drugs, or heavy-metal or
carbon monoxide poisoning
. Dystonias may also appear as a symptom of other inherited diseases. Dystonias do not shorten life expectancy, except in rare cases.
Mix of Individualized Treatment
There is no universally effective treatment for all dystonia disorders. Instead, most people receive highly individualized treatment, including drugs, surgery, and physical therapy aimed at stopping or reducing muscular pain and spasm.
Some frequently used treatments include:
Drugs aimed at altering neurotransmitter levels in the brain are often the first type of drug treatment. These include:
Drugs that reduce acetylcholine (eg,
Muscle relaxants (eg,
Dopamine-boosting medicines (eg,
Small amounts of this drug may provide temporary relief of some dystonias that affect only a particular part of the body. Leon Fleisher resumed his musical career after receiving
. Botox blocks the release of acetylcholine and, when effective, relieves symptoms for up to six months before more injections are needed.
Surgery and Deep Brain Stimulation
If drug therapy is not successful, surgery may be the next step for people with severe symptoms.
Deep brain stimulation can also be tried in certain cases. In this procedure, electrical pulses are transmitted to the region of the brain that is causing the contraction.
Dystonia Medical Research Foundation
Worldwide Education and Awareness of Movement Disorders
Dystonia Medical Research Foundation Canada
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