Dystonia Movement Disorders
To many people — sometimes even experienced doctors — the involuntary movements, limited mobility, abnormal muscular postures, verbal tremors, and muscular pain that are symptomatic of dystonia simply point to other neuromuscular disorders, such as Parkinson’s disease, carpal tunnel syndrome, or Tourette’s 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 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
In early-onset dystonia, symptoms first appear in childhood, between 5-16 years old, usually in the foot or less commonly in the hand. In general, the younger a person is when diagnosed, the greater the chances that dystonia will spread, affecting other parts of the body. For others, 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 commonly 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?
About half of the cases of dystonia result from genetic causes involving as many as ten different genes. One gene in particular that seems to be linked to early-onset dystonia is a gene on chromosome nine, called DYT1. DYT1 is responsible for making a damaging protein—torsin A—often found in the nearly 50,000 people with early-onset dystonia. 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.
The remaining half of dystonias 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:
Neurotransmitter Balance. Drugs aimed at altering neurotransmitter levels in the brain are often the first type of drug treatment. These include:
- Drugs that reduce acetylcholine, such as trihexyphenidyl, benztropine, ethopropazine, and procyclidine HCl.
- Muscle relaxants such as diazepam, lorazepam, clonazepam, and baclofen to keep GABA in balance.
- Dopamine-boosting medicines, including levodopa/carbidopa and bromocriptine.
Botulinum Toxin (BT): 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 BT injections. BT 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. Surgeries to destroy part of the brain’s thalamus or globus pallidus have some success, as have attempts with deep brain stimulation. Nerve-cutting surgeries may also provide some relief.
Dystonia Medical Research Foundation
National Institute of Neurological Disorders and Stroke
WeMove—Worldwide Education and Awareness of Movement Disorders
BC Health Guide
Dystonia. National Institutes of Health. National Library of Medicine, MedLine Plus website. Available at http://www.nlm.nih.gov/medlineplus/dystonia.html. Accessed October 11, 2004.
Dystonias fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/health_and_medical/pubs/dystonias.htm. Accessed October 11, 2004.
Internationally renowned pianist Leon Fleisher partners with DMRF to launch freedom to play. Dystonia Medical Research Foundation website. Available at: http://www.dystonia-foundation.org/news.asp?id=139. Accessed October 11, 2004.
Krauss JK, Yianni J, Loher TJ, et al. Deep brain stimulation for dystonia. J Clin Neurophysiol. 2004 Jan-Feb;21(1):18-30.
Last reviewed May 2008 by Rimas Lukas, MD
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