What is affected by dystonia?

Dystonia affects people of all ages and ethnic backgrounds. Some forms of it can be inherited; researchers have identified more than 10 genes or chromosome locations associated with the disorder. It produces painful, prolonged muscle contractions that can deform a limb or the spine.

Muscle spasms can affect any part of the body including eyelids (blepharospasm), face (oromandibular), vocal cords (dysphonia) and/or arms, legs and trunk. “Writer’s cramp” is a dystonia in the hand or arm muscles.

Dystonia may also occur due to a birth injury, traumatic injury, toxins (such as manganese), certain medications (such as haloperidolHaldol), stroke, or be part of another disorder such as Parkinson’s disease. It develops gradually, and symptoms can appear at any age. There is no specific test for dystonia, so it is diagnosed by a neurologist based on the symptoms and signs of the disease.

Dystonia can come and go, so some people who experience it may have a hard time convincing health care providers that it exists. The spasms may change significantly with different actions. For example, hand dystonia may occur when trying to write but not during other activities. It does not shorten life but like essential tremor, it has life-altering effects including pain and discomfort. In severe cases, it may interfere with basic activities such as walking, dressing, or eating.

Symptoms of dystonia

• Involuntary muscle contractions that cause a distorted posture or appearance
• Start in a single region, such as your foot, hand or face
• Occur during a specific action like running forward or walking backward
• Plateau within a few years

Treatment for dystonia

Medications
There are a number of medications that can treat dystonia, either alone or in combination. One of the most common treatments is Botox (botulinum toxin) injections. Another formulation of botulinum toxin used is called Myobloc® (U.S.) or Neurobloc® (Europe).

Although most people in the U.S. know Botox as a cosmetic treatment for facial lines, it was originally developed in 1989 as an orphan drug to treat strabismus (eye squints), and was later used for dystonia and muscle spasms. Injection of the drug causes weakness in the targeted muscle, thus relaxing the spasm and relieving the dystonia.

A new technique is a high-frequency stimulation, Deep Brain Stimulation (DBS). The setting of the DBS neurostimulator is easily adjustable by an external magnetic control — without further surgery — if the patient’s condition changes. Unlike previous surgeries for dystonia, DBS does not damage healthy brain tissue by destroying nerve cells. DBS blocks electrical signals from targeted areas in the brain.