Dystonia is estimated to be as common as multiple sclerosis, yet few people have heard of it and even fewer have any idea what it is. Many GPs are unfamiliar with dystonia and may experience some difficulty in diagnosing the condition. Until recently, little research into dystonia had been carried out and there was a limited range of treatment options available. However, the outlook for dystonia sufferers is improving all the time and awareness of the condition is growng, partly as a result of the work of The Dystonia Society (a registered charity).
WHAT ARE THE CAUSES OF DYSTONIA?
The causes of dystonia are not yet fully understood but it is thought that in some cases it may be caused by a chemical imbalance in a particular area of the brain. The basal ganglia are structures deep in the brain that are in part responsible for controlling movement. They regulate the numerous muscle contractions that are necessary to move the body. If this part of the brain is damaged in some way, the wrong muscles contract when we try to move or the muscles contract unnecessarily even when we are still, causing uncontrollable twitching, tremors and contractions. These spasms are known as dystonic movements.
Some dystonia patients may have suffered from an illness or injury which has damaged the basal ganglia, but in the majority of cases the underlying cause of the condition is unknown. If no cause can be identified, then the specialist may decide to carry out blood tests or scans in an attempt to determine the cause.
WHAT ARE THE MAIN PROBLEMS ASSOCIATED WITH DYSTONIA?
The severity of symptoms can vary from a minor inconvenience to a total interruption of normal life. However, two of the main problems experienced by sufferers are isolation and lack of awareness of the condition. Your family, friends and work colleagues will probably never have heard of dystonia and may find it difficult to understand the problems you face. Talk to them about your condition. It may help to give them information about dystonia such as this leaflet, so they can better understand your problems. This will help them to accept you as you are.
You may feel embarrassed by the symptoms of dystonia and be tempted to avoid social situations. Try to avoid becoming a recluse. Remember that thousands of other people are experiencing the same problems as you. Most have found ways of coping with their illness.
WILL MY DYSTONIA IMPROVE OR COULD IT GET WORSE?
If dystonia develops in childhood, particularly if it starts in the legs, then in many (but not all cases it will spread to other parts of the body and become generalised. However, when it develops in adults, it tends to have different characteristics and is generally confined to a local (or 'focal') dystonia - it is unlikely to spread to other parts of the body; at most it may spread to one further area.
Dystonia can sometimes improve or disappear for no apparent reason. The likelihood of this happening is estimated to be anything from one in ten to one in twenty, although there is no way of predicting whether this will happen. In some cases, the dystonia returns after a period of remission, but other patients remain symptom-free for the rest of their lives.
IS DYSTONIA HEREDITARY?
Dystonia that develops in children is often inherited through one or more affected genes. The majority of idiopathic segmental or generalised dystonia is inherited in a dominant manner, which means that if a parent has this type of dystonia, there is 50% chance of passing the dystonia gene to each child. However, not everybody who inherits the gene goes on to develop dystonia, a phenomenon known as reduced penetrance. In the UK only about 40%of those with the gene develop dystonia.
Dystonia that develops in adults may also be genetically inherited, although this is less common. The fact that it is inherited may be overlooked, since other family members may have the condition so mildly that they have never sought medical advice or their dystonia was misdiagnosed as something else, such as ordinary tremor.
WHAT SHOULD I DO IF I THINK I HAVE DYSTONIA?
If you think you may be suffering from dystonia and it has not yet been daignosed, you should see you doctor and ask to be referred to a neurologist for further investigation. If you are disgnosed as suffering from blepharospasm, you may be treated by and ophthalmologist.
IS THERE A CURE FOR DYSTONIA?
Unfortunately, there is not yet a cure for most forms of dystonia. However, there is now a range of treatments available and in some cases these can be very successful in managing the condition.
WHAT FORMS OF TREATMENT ARE AVAILABLE?
A variety of treatments are available for dystonia patients, some of which are effective at improving a sufferer's quality of life. These will be prescribed depending upon the type and severity of dystonia. The main options are drug therapy, surgery or a new treatment: injections of botulinum toxin.
WHAT DRUG TREATMENTS ARE AVAILABLE?
Drugs are effective for some patients. Some work by interfering with the neurotransmitters, chemical substances which carry messages to the central nervous system. Others are designed to relax the muscles, reduce shaking and control muscle spasms. However, to be effective, drugs need to be taken on a continuous basis and may cause unacceptable side effects.
Drugs
that your doctor may prescribe include the following:
Artane (benzhexol), Cognetin (benztropine), Valium (diazepam), Rivotril
(clonazepam), Lioresal (baclofen), Tegretol (carbamaxepine), Sinemet
or Madopar (levodopa), Parlodel (bromocriptine), Lartgactil (chlorpromazine),
Serenace or Haldol (haloperidol), Orap (pimozide), Nitoman (tetrabenazine),
Symmetrel (amantadine). New drugs are being introduced regularly,
and you may be offered other formulations.
IS THERE AN OPERATION THAT WOULD HELP ME?
Surgery is only rarely used for dystonia as it can be disfiguring and may produce unacceptable side effects.
WHAT IS BOTULINUM TOXIN?
Injections of purified botulinum toxin are now being used to treat some forms of dystonia including blepharospasm and spasmodic torticollis. In some centres, it is also used to treat laryngeal dystonia and writer's cramp. Botulinum toxin acts on the junctions between the nerves and muscles, preventing the release of one of the chemical messengers called acetylcholine from the nerve endings. This results in a weakened muscle and helps to reduce muscle contractions. Since the nerve endings grow back after approximately 8 weeks, the treatment
needs to be repeated every two or three months Any side effects are rarely serious and always temporary.
IS THERE ANYTHING ELSE I CAN DO TO HELP CONTROL THE CONDITION?
Other treatments such as biofeedback, homeopathy, acupuncture, physiotherapy and dietary management have been tried with varying degrees of success, but with very little long-term benefit.
A positive attitude is important. Dystonia is not a life-threatening condition, but in its most serious forms, it can have a devastating effect on a patient's life. Find out as much as you can about dystonia so that it is no linger a ' mystery' illness. This will help you accept your condition and enable you to find ways of coping with the symptoms of dystonia and leading a more normal life again.
Dystonia
sufferers often feel isolated and afraid, especially when their
condition is first diagnosed. Talking to other sufferers and sharing
experiences can be reassuring and helps to avoid depression.
FOR
FURTHER ADVICE, AND FOR INFORMATION ON MEMBERSHIP OF DYSTONIA IRELAND,
PLEASE CONTACT:
Dystonia Ireland,
Maria Hickey,
33 Larkfield Grove,
Harold's Cross,
Dublin 6W.
Tel: +353 1 492 2514
Dystonia Ireland gives support and information to sufferers and
their families, holds regular meetings and publishes a newsletter
for members. Dystonia Ireland is also involved in varous campaigns
to increase public awareness about this group of disorders and in
funds for research into the causes of, and potential cures for dystonia.
