Dystonia

When do symptoms of dystonias occur?

In some individuals, symptoms of a dystonia appear in childhood, approximately between the ages of 5 and 16, usually in the foot or in the hand. In generalized dystonia, the involuntary dystonic movements may progress quickly to involve all limbs and the torso, but the rate of progression usually slows noticeably after adolescence.

For other individuals, the symptoms emerge in late adolescence or early adulthood. In these cases, the dystonia often begins in upper body parts, with symptoms progressing slowly. A dystonia that begins in adulthood is more likely to remain as a focal or segmental dystonia.

Dystonias often progress through various stages. Initially, dystonic movements are intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonic motions may lead to permanent physical deformities by causing tendons to shorten.

In secondary dystonias due to injury or stroke, people often have abnormal movements of just one side of the body, which may begin at the time of the brain injury or sometime afterward. Symptoms generally plateau and do not usually spread to other parts of the body.


Are there any treatments for dystonias?

No one treatment has been found universally effective. Instead, physicians use a variety of therapies aimed at reducing or eliminating muscle spasms and pain.

Medication. Several classes of drugs that may help correct imbalances in neurotransmitters have been found useful. But response to drugs varies among patients and even in the same person over time. The most effective therapy is often individualized, with physicians prescribing several types of drugs at different doses to treat symptoms and produce the fewest side effects. Note that not all of the medications mentioned below are currently available for patients in the United States.

Frequently, the first drug administered belongs to a group that reduces the level of the neurotransmitter acetylcholine. Drugs in this group include trihexyphenidyl, benztropine (Cogentin), and procyclidine HCl. Sometimes these medications can be sedating, especially at higher doses, and this can limit their usefulness.

Drugs that regulate the neurotransmitter GABA may be used in combination with these drugs or alone in patients with mild symptoms. GABA-regulating drugs include the muscle relaxants diazepam (Valium), lorazepam (Ativan), clonazepam (Klonopin), and baclofen (Lioresal).

Other drugs act on dopamine, a neurotransmitter that helps the brain fine-tune muscle movement. Some drugs which increase dopamine effects include levodopa/carbidopa (Sinemet) and bromocriptine (parlodel). DRD has been remarkably responsive to small doses of this dopamine-boosting treatment. On the other hand, patients have occasionally benefited from drugs that decrease dopamine, such as reserpine or the investigational drug tetrabenazine. Once again, side effects can restrict the use of these medications.

Anticonvulsants including carbamazepine (Tegretol), usually prescribed to control epilepsy, have occasionally helped individuals with dystonia.

Botulinum toxin (Botox). Minute amounts of this familiar toxin can be injected into affected muscles to provide temporary relief of focal dystonias. First used to treat blepharospasm, such injections have gained wider acceptance among physicians for treating other focal dystonias. The toxin stops muscle spasms by blocking release of the excitatory neurotransmitter acetylcholine. The effect lasts for up to several months before the injections have to be repeated.

Surgery and other treatments. Surgery may be recommended for some patients when medication is unsuccessful or the side effects are too severe. In selected cases, advanced generalized dystonias have been helped, at least temporarily, by surgical destruction of parts of the thalamus, a structure deep in the brain that helps control movement. Speech disturbance is a special risk accompanying this procedure, since the thalamus lies near brain structures that help control speech. Surgically cutting or removing the nerves to the affected muscles has helped some focal dystonias, including blepharospasm, spasmodic dysphonia and torticollis. The benefits of these operations, however, can be short-lived. They also carry the risk of disfigurement, can be unpredictable, and are irreversible.

Some patients with spasmodic dysphonia may benefit from treatment by a speech-language pathologist. Physical therapy, splinting, stress management, and biofeedback may also help individuals with certain forms of dystonia.