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more articles by Gaffney, James , MD  |  author's bio

Dystonia is a Frequently Misdiagnosed Condition

Dystonia is a Frequently Misdiagnosed Condition

By James Gaffney, M.D.

Dystonia is a neurologic movement disorder characterized by involuntary, sustained, patterned, repetitive muscle contractions, usually of opposing muscles. These contractions, which typically affect the same group of muscles in any given individual, cause unwanted movements or abnormal postures. A person with cervical dystonia or spasmodic torticollis, for example, might experience repeated turning or tilting of the head to one side due to involuntary contractions of the neck muscles. These uncontrollable muscle spasms can result in considerable pain, as well as difficulty maintaining head position. The current thinking about dystonia is that it is not a disease of the muscle, spinal cord, or nerve roots, but rather a primary brain disease having to do with processing movement and motor control.

Approximately 30 people in 100,000 suffer from some form of dystonia in this country, making it a relatively uncommon condition. Dystonia is often misdiagnosed, as exemplified by the fact that the average time to diagnosis from onset of symptoms is measured in years. This is partly because dystonia is not well known and also because there is no specific test for dystonia, further complicating diagnosis. While there is no cure, there are therapies available that can reduce symptoms.

Are there different types of dystonia?

A common way to classify dystonia is by the cause, which is either primary or secondary. Primary dystonia, which can occur in children and adults, has no known identifiable cause. By comparison, the onset of secondary dystonia is related to an identifiable condition such as brain injury, stroke, Parkinson's disease, multiple sclerosis, or in response to a toxin exposure or to adverse effects of a medication.

Another way in which dystonia is classified is by clinical characteristics. When the entire body is affected, this is generalized dystonia. When a specific region of the body is affected, this is focal dystonia. There are several types of focal dystonias. Spasmodic torticollis affects muscles in the head and neck. Cranial dystonia involves the face and jaw; one genetic form is Meige syndrome. Blepharospasm refers to involuntary contractions of the eyelids, which in severe cases can result in functional blindness. Laryngeal or spasmodic dysphonia affects the vocal cords, and may reduce the voice to a breathy whisper. Some forms of dystonia are brought out by specific movements or actions (task-specific or action dystonia). The classic example is writer's cramp, in which involuntary cramping of hand muscles occurs with handwriting. Professional musicians who develop this type of dystonia while playing their instrument may find their playing careers at a premature end.

How is dystonia diagnosed?

Dystonia is diagnosed by a thorough physical and neurologlc examination, and an analysis of the patient's symptoms. There is no specific test for most forms of dystonia. Some tests may be necessary to look for underlying medical or neurological conditions. In fluctuating or episodic conditions, serial evaluations over time might be needed before the diagnosis is established.

Who is at risk for dystonia?

For the most part, dystonia is an equal opportunity illness, affecting all races and both genders. Ashkenazi Jews are at much higher risk for generalized dystonia that the rest of the population. Meige syndrome is an inherited dystonia seen in all races. When including secondary dystonias, it is clear that anyone could suffer an injury or illness leading to a dystonic disorder.

How is it treated?

There are several approaches to treating dystonia including medication, nonpharmacologic therapies, surgery, and botulism toxin therapy. For many types of dystonia, medications are helpful but for many patients they are, at best, partially effective. For most patients, the most effective therapy is botox injections. Pharmaceutically manufactured botulinum toxin is injected into the affected muscles. The effect of the injections is to decrease the tendency of the overactive muscles to contract by altering the signal from the nerve to the muscle. The effect wears off in two to six months, depending on the individual patient. Sometimes unwanted muscle weakness is produced but this also wears off over time. Surgery is an option for a few of the focal dystonias. For example, in hemifacial spasm, a neurosurgeon can surgically decompress the facial nerve. Stretching, exercise or other nonpharmacologic approaches may be beneficial.

It is also important to recognize the tremendous emotional strain of living with dystonia. Years of undiagnosed symptoms, variable degrees of physical pain, and social ostracism are among a few of the burdens involved. There is no cure for dystonia, but with proper diagnosis, education, psychological support, and judicious medical management, we can help patients live with this under-recognized disorder.

Dr. Gaffney is board certified in neurology and serves on the medical staff of Cayuga Medical Center at Ithaca. He is in practice with Cayuga Neurologic Services and can be reached at (607) 273-6757.

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