Breast cancer image 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 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 may occur

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 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. 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:

Botulinum Toxin

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 injections. 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.