Dystonia

Q. What is Dystonia?
A. Dystonia is a little known neurological condition affecting the central nervous system and consists of a group of related movement disorders, characterised by involuntary and often very painful and prolonged spasms or muscle contractions. Recent medical development means it is now treatable, although it is not yet curable.   Different medications can be used but the majority of people now opt for regular injections of Botulinum Toxin which weakens those muscles in spasm thus giving temporary relief, usually lasting about 12 weeks.

Q. Can Dystonia get better?
A. 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.

Q. How does Dystonia affect people of different ages?
A. 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.

Q. Is Dystonia inherited?
A. 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 i.e. responding to medication such as Levadopa medication 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.

Q. What help can someone with Dystonia get?
A. Apart from the medical and surgical treatments outlined below, 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 can also be deeply affected: feelings of frustration, guilt and helplessness are common.

This is where A.D.D.E.R. (Action for Dystonia, Diagnosis, Education and Research) can help by giving you information about dystonia.

Contact them using their website at http://www.actionfordystonia.co.uk or the following contact details:
Telephone: 0191 477 7700
Fax: 0191 477 7700

Email: info@actionfordystonia.co.uk or adder.adder2@connect

Drugs:
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 single 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.

Surgery:
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 (one of the muscles surrounding the eye), and sometimes to help torticollis i.e. when the head is turned to one side. 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.

Q. What research is there surrounding Dystonia?
A. A great deal of research is going on, both in the UK and worldwide. The basal ganglia part of the brain 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