Frequently Asked Questions

Can Dystonia Get Better?

There is a small chance of dystonia improving or disappearing spontaneously, with something like 10-15% of patients experiencing temporary (or occasionally even permanent) "remission". Why this happens, to whom it will happen, or when it will happen cannot yet be predicted. This is of great importance, for it shows that the brain in dystonia may not be damaged permanently.

The Diagnosis of Dystonia

Dystonia is a fairly rare condition, which your GP may not have seen before. In addition the movements and postures may be influenced by stress and emotions. The best course of action for your doctor if they think you may have dystonia is to refer you for diagnosis to a neurologist specialising in movement disorders.

What Treatment is Available?

For many patients with focal dystonias, including blepharospasm, spasmodic torticollis, oromandibular dystonia, laryngeal dystonia and sometimes writer's cramp, injections of botulinum toxin, to temporarily weaken the muscles involved, have become a very effective treatment.

Botulinum toxin is usually most effective if the dystonia affects only a limited group of muscles. Generally the injections need to be repeated every 3 or 4 months, though this may vary from patient to patient. The injections are available in certain neurology, ophthalmology, and ENT clinics.

It is now being recognised that some specialised types of physiotherapy can help, usually in association with botulinum toxin, especially for patients with torticollis. Many other types of treatment have been tried. Unfortunately, there is little evidence that acupuncture, homoeopathy or diet produce any lasting benefit. Some patients, however, do feel that such treatments lessen stress, which in turn can reduce muscle spasms.

Dystonia at Different Ages

When primary dystonia starts in childhood or adolescence, the legs are usually affected first, and it is likely (though not inevitable) that the dystonia will spread and become generalised.

In contrast, when dystonia begins in an adult it is usually one of the focal forms and tends to remain limited to that part of the body.

Is Dystonia Inherited?

The fact that dystonia sometimes affects more than one member of a family makes it clear that inheritance plays an important role in dystonia. Most cases of primary segmental and generalised dystonia are due to a gene inherited in a dominant manner. Many cases of dopa - responsive dystonia are inherited in this way. "Dominant" means that each child of a parent who carries the abnormal gene has a 50/50 chance of inheriting that gene.

However, in the UK only about 40% of people who carry the gene develop dystonia and this is called reduced penetrance. Thus the risk of dystonia developing is lower. In addition, the severity of dystonia within a family may vary markedly. For people who have a focal dystonia, rather than generalised dystonia, the picture is not so clear and the risk may be less.

A number of different genes on different chromosomes have now been identified as being linked with different types of dystonia, but researchers don't yet know exactly how a particular gene causes dystonia. The DYT1 gene on chromosome 9 which is related to early - onset generalised dystonia was located only in 1997. One benefit of finding this single mutation for familial dystonia is that genetic counselling and testing will in future be available for appropriate individuals. Patients should seek specialist advice from a neurologist about the risks to their relatives, based on the details of each individual case. As with all genetic research, the next step will be to work out what the function of a gene is and how, when it goes wrong, it causes dystonia.

What Research Is Going On?

A great deal of research is going on, both in the UK and worldwide. The basal ganglia has attracted massive interest in the last decade. More is known about this part of the brain than ever before, and the pace of new discoveries is increasing.

Within the UK there are research groups studying the genetics of dystonia, as well as special ways of imaging the way the brains of people with dystonia differ from those of people without the condition. Other researchers are looking for clues as to the cause of dystonia through neurophysiological and biochemical studies.

Can Drugs Help Dystonia?

If the problem is mild, it may be best to avoid drug treatment. Drugs need to be taken continuously for long periods of time, and all drugs can cause unwanted side-effects. No drugs can cure dystonia yet.

However, if your dystonia is causing unacceptable disability, then drug treatment may be recommended to try to control the muscle spasms. Unfortunately drug treatment is scarcely ever 100% effective, and many patients do not get great relief. Another problem is that no one drug is best for all patients with dystonia. Children usually respond better. If one drug doesn't work you may need to try a series of different drugs to discover which ones help, and to establish the dose which is best for you, offering the greatest relief but producing the least side - effects.

Can Surgery Be Helpful?

Surgery is occasionally a "last resort" for a few people with certain types of dystonia, but often it cannot help at all. All surgical operations for dystonia are destructive. One type of brain surgery destroys that part of the basal ganglia which is "firing off" wrong instructions. In another, the nerves of the abnormally contracting muscles may be cut, to paralyse them.

Nerve section may be used to restore vision in blepharospasm, and sometimes to help torticollis. Selective peripheral denervation (SPD), for example, is a technique developed in North America and is now available on a limited basis for suitable torticollis patients in the UK. Deep brain stimulation is a new technique which is being shown to be effective for patients not able to benefit from more conventional treatments. However, all the above are highly specialised procedures undertaken in only a few centres. One fear is that surgery may cause problems in the long-term which cancel out any short-term gain. Brain surgery today, both in the US and the UK, is more or less reserved for hemi - dystonia, with varying results.

What Causes Dystonia?

Dystonia is a movement disorder, which need not involve any other functions of the brain. Thus intellect, personality, memory, emotions, sight, hearing, sensation and sexual function are quite normal in patients with primary dystonia.

We believe that the symptoms of dystonia are due to malfunction of a small area of the brain known as the basal ganglia which controls certain aspects of movement. In most cases, no physical cause can be identified, and in the few cases of idiopathic dystonia where the brain has been examined under the microscope no anatomical abnormalities can be seen. This is why we suspect that dystonia may be due to some imbalance of the chemical messengers in the basal ganglia.

How Can a Patient With Dystonia Be Helped?

Apart from the medical and surgical treatments outlined, a positive attitude is important.

Dystonia in itself is not a life-threatening condition, but the more severe forms can have a devastating effect on a patient's quality of life, often causing considerable pain, affecting the sufferer's ability to work and the whole family's everyday life and social activities. How people face up to this challenge is important.

It is quite natural, upon diagnosis, for the patient to go through stages of shock, anger ("Why me?"), despair and depression, and then of acceptance. The isolation and fear which people feel can often be countered by the knowledge that there are thousands of others who have been through the same feelings and learned to come to terms and cope with their dystonia. Other members of a patient's family (his or her "carers") can also be deeply affected: feelings of frustration, guilt and helplessness are common.

This is where A.D.D.E.R. can help by giving you information about dystonia.