Dystonia

Dystonia is a movement disorder that causes involuntary contractions and spasms of muscles. These muscle contractions force one or more parts of the body into repetitive, twisting movements and abnormal postures. There are different forms of dystonia, which can affect one muscle or many muscles throughout the body. Symptoms can range from mild to severe.

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Symptoms

Dystonia typically develops slowly and may remain unrecognized for weeks or months. Mild symptoms often begin occurring after increased physical activity, fatigue or stress, but may occur at any time, even at rest.

Symptoms of dystonia may or may not progress over time, and include:

  • Involuntary turning or pulling of the head to one side, forward or backward
  • Rapid and uncontrollable blinking
  • Progressively tighter handwriting after a few sentences
  • Foot cramps
  • Turning or dragging of one foot
  • Voice or speech problems
  • Body shakes
  • Jerky movements
  • Loss of control of parts of the body
  • Body twisting
  • Awkward postures

Dystonia does not affect involuntary, or smooth, muscles such as those found in the heart, bladder, intestines, respiratory tract and reproductive tract.


Causes and Risk Factors

In most cases, the cause of dystonia is unknown, though it is sometimes inherited. Dystonia can be a condition on its own or can be associated with a degenerative brain disease such as Parkinson's or Huntington's diseases. Other factors being considered as causes of dystonia include trauma or injury to the brain, brain tumors, stroke, or taking certain medications.

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Diagnosis

A physician will perform a physical examination and take a complete medical and family history, with particular attention paid to whether the patient has close relatives who have been diagnosed with dystonia.

To determine if there are other conditions causing the symptoms, doctors may order blood or urine tests, computerized tomography (CT), magnetic resonance imaging (MRI) or electromyography (EMG) scans. Genetic screening may be ordered to determine if the dystonia is of the inherited variety.

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Treatments

Dystonia is a chronic disorder with no known cure. Generally, dystonia does not alter cognition, intelligence or shorten a person’s life span. Since there are many types of dystonia, treatment typically consists of multiple strategies and may differ based on age, overall health and the severity of the patient’s symptoms.

Each patient’s treatment requires a carefully tailored, customized care plan, such as those coordinated by the expert team at Cedars-Sinai’s Movement Disorders Program.

Some successful treatments have included the use of botulinum neurotoxin, also known by trade names Botox®, Dysport®, Myobloc®, and Xeomin®, in combination with electromyography and needles, which simultaneously can record the electrical activity of the muscle and inject the drug. This causes the muscles to be less stimulated by the nerves, resulting in decreased contractions and spasms.

Other medications used to treat dystonia symptoms may include anticholinergic agents, GABAergic agents or dopaminergic agents, which work by affecting the neurotransmitters in the brain that carry signals to the muscles. Each of these drugs - either alone or in combination - may be prescribed, based on the type of dystonia.

Surgical options also may be considered. With deep brain stimulation (DBS), small electrodes are implanted in the brain and brief electrical pulses are sent to the areas of the brain causing the symptoms. This treatment is used to control shaking, stiffness and loss of muscle control when drug therapy isn’t effective or side effects are too uncomfortable.

Advances in technology, particularly in medical imaging and in devices, combined with great surgical skill and significant clinical experience in treating movement disorders can provide very satisfying outcomes for dystonia patients, particularly those with childhood onset of this condition.