To 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
Tourette syndrome. 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 can involve:
Involuntary, long-lasting muscle contractions causing twisting, abnormal postures, or repetitive movements of a particular part of the body
Movement can spead to near-by areas and occasionaly affect one half of or the entire body
Speech problems, tremor, or uncontrollable eye blinking
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.
Early advocates came 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. Musicians with Dystonia is a group that specializes in helping musicians who struggle with task-specific focal dystonia, which can sideline a music career. Although there are no definitive treatments available, some musicians have reclaimed their careers by learning how to reduce symptoms using sensory tricks. These include switching hands, using different fingers, or using touch near the area of abnormal movement. These methods may also be used in combination with other treatments, such as
botulinum toxin injections.
What Causes It?
The gene DYT1 on chromosome 9 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,
stroke, 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:
Medications that reduce acetylcholine
Medications that boost dopamine
Small amounts of botox may provide temporary relief of some dystonias that affect only a particular part of the body. 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.
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Dystonia. American Association of Neurological Surgeons website. Available at: http://www.aans.org/Patient%20Information/Conditions%20and%20Treatments/Dystonia.aspx. Published October 2005. Accessed February 18, 2016.
Dystonias fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/health_and_medical/pubs/dystonias.htm. Updated February 1, 2016. Accessed February 18, 2016.
Early-onset primary dystonia. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/early-onset-primary-dystonia. Updated February 15, 2016. Accessed February 18, 2016.
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Musicians with dystonia. Dystonia Medical Research Foundation website. Available at: http://dystonia-foundation.org/about-us/people/musicianswithdystonia. Accessed February 18, 2016.
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