The Dystonia Society

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Frequently asked questions

Who is affected by dystonia?

Dystonia affects men, women and children of all ages.

If dystonia develops in childhood, it tends to become generalised. Dystonia which has its onset in adult life usually remains focal and is more common in those over 40 years of age. Dystonia can be difficult to diagnose and many patients remain untreated because their symptoms are unrecognised. It is thought that there are more than 70,000 people with dystonia in the UK.

What are the causes of dystonia?

The causes of dystonia are still not fully understood, but there appears to be a problem in an area of the brain called the basal ganglia, which is involved in controlling movement.

It has been suggested that an imbalance of neurotransmitters (chemical messengers) such as dopamine, can lead to a defect in the control of muscles and movement, both symptoms of dystonia.

In some cases, damage to the basal ganglia can lead to dystonia. In this instance, they are referred to as secondary dystonias. Such damage can be caused by stroke or tumour of the basal ganglia. The result of certain drugs used to treat psychiatric disorders, especially dopamine blocking drugs. There are numerous causes of secondary dystonia. In the majority of types of dystonia, no underlying cause is found. In some types of dystonia possible genetic factors may be involved. These are called primary or idiopathic dystonia.

Why have I never heard of dystonia?

Even though dystonia is estimated to be about ten times more common than motor neurone disease, and the third most common neurological disorder, many people have never heard of it.

Until recently, many GP's were unfamiliar with dystonia. In the last few years, medical awareness of dystonia has increased greatly and the outlook for people with dystonia is improving. The Dystonia Society, a registered charity, devotes much time and many resources to fund research and promote awareness among medical professionals and public alike.

Is there a cure for dystonia?

Unfortunately, there is not as yet a cure for dystonia. However, most forms of dystonia, can be very successfully managed.

Is dystonia inherited?

An important question for many people is will my child inherit dystonia? This is a difficult question to answer, because there are so many different forms of dystonia.

Some forms of dystonia are definitely inherited. Others are not inherited. Presently 13 inheritable forms of dystonia have been identified. These are the result of a genetic abnormality.

Most primary segmental or generalised dystonias that develop in childhood are inherited in a dominant manner. This means that if a parent has this type of dystonia, there is a 50% chance of passing the dystonia gene to each child. Importantly, not everyone who inherits the gene develops dystonia. This phenomenon is known as reduced penetrance.

Approximately 30% - 40% of those who inherit the gene go on to develop and present the symptoms of dystonia. If a parent has the gene for early onset dystonia (DYT1), any children they may have will have a 15% chance of developing dystonia.

Dystonia which develops in adults may also be inherited. This is often difficult to identify since other family members may have only a mild form of dystonia. They may have never sought medical advice or perhaps their dystonia was misdiagnosed.

What forms of treatment are there?

Various treatments are available for dystonia. These will be determined by the type and severity of the dystonia. The main options are: -

DRUGS

Drugs are effective for some patients. Some work by interfering with neurotransmitters, the chemical substances that carry messages within the brain. Others are designed to relax the muscles, reduce shaking and control muscle spasms. To be effective they have to be taken continuously. The following drugs could be prescribed: -

benzhexol (trihexyphenidyl)

benztropine (benzatropine)

diazepam

clonazepam

baclofen

carbamazepine

levodopa

tetrabenazine

Those drugs which have been used in the past but are rarely used nowadays include:

bromocriptine

chlorpromazine

haloperidol

pimozide

amantadine

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BOTULINUM TOXIN

Botulinum toxin injections are generally the most effective treatment for dystonia where it affects the muscles of the neck or around the eyes.

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SURGERY

Surgery may be an option where patients have never been or are no longer receptive to other treatments. (Resistance to botulinum toxin can develop in a minority of patients over a period of time). Surgical treatments include selective denervation and deep brain stimulation (DBS). In the latter case, electrodes are planted in the basal ganglia to help ‘rebalance’ movement and to control posture. Recent research has led to refinement in the placing of electrodes to ensure optimum effect.

Will my dystonia improve?

In many cases, if dystonia develops in childhood, particularly if it starts in the legs, it may spread to other parts of the body, and can become generalised.

When dystonia develops in adults, it usually confined to one part of the body (focal dystonia). If it spreads – which is unlikely – it usually affects only one other area, which is commonly the nearest muscle group.

The progress of dystonia is unpredictable. The severity of symptoms can vary from day to day, and while there is often an element of overall progression, it is difficult to estimate how long this will last. Typically, a focal dystonia will progress very gradually over a five year period, and then progress no further. Symptoms in all dystonic conditions can vary. For some people, their dystonia may sometimes improve or disappear altogether for no apparent reason. The likelihood of a total remission of symptoms has been estimated as somewhere between 1 in 10 and 1 in 20. In some cases, the dystonia may eventually return, but in others it will disappear completely.

What should I do if I think I have dystonia?

If you think you may have dystonia and it has not yet been diagnosed, you should see your doctor and ask to be referred to a neurologist specialising in movement disorders.

If you are diagnosed as having blepharospasm, you may be treated by an ophthalmologist. If you have laryngeal dystonia, you may see an ear, nose and throat (ENT) specialist.

During your consultation with the appropriate specialist, you will undergo an examination and you will also be asked many questions to establish if there is any family history of neurological problems and muscle spasms.

The specialist will evaluate of the nature of the symptoms you present with, including.

  • Age at symptom onset
  • Body areas affected
  • Progression of symptoms

Following the examination, the specialist will discuss their findings with you and treatment options.

How do I live with dystonia?

As with the onset of any long-term medical condition, some people who develop dystonia may go through an initial period of depression, embarrassment and outrage – or relief that there is an explanation for their symptoms.

Most people manage to develop effective strategies for coping with the challenges that their condition brings. Successful treatments to lessen their symptoms, effective pain control and the acquisition of sensory ‘tricks’ all help to ameliorate social situations.

I have a lot of pain with my dystonia is this usual?

The degree of pain associated with dystonia varies greatly between individuals and may depend upon the type of dystonia you have.

Effective pain relief and sensory tricks (touching the affected area with your finger tips) help people manage the pain associated with dystonia. If you feel that your pain is not being controlled by over the counter medicines, or successfully by your GP, and is adversely affecting the quality of your life, you should request a referral to a specialist pain management team.

Click here to open the dystonia and pain information leaflet

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