Frequently Asked Questions
How is dystonia diagnosed?
Although dystonia affects over 40,000 people in the UK, your GP may not have seen it before: or, if he/she has another patient with dystonia, your symptoms may be very different. In addition the movements and postures may be influenced by stress and emotions. There is no single diagnostic test that can confirm dystonia, and the diagnosis is made predominantly on its clinical presentation – that is, what it looks like, feels like, and how the symptoms have developed over time.
In most cases, confirmation of the diagnosis is made by a neurologist specialising in movement disorders; in the case of blepharospasm (around the eyes) may be made by an ophthalmologists, or in laryngeal dystonia (throat) the diagnosis may be made by an ENT specialist.
If dystonia begins in childhood or adolescence, it may be diagnosed by a paediatric neurologist.
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 be predicted.
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 may be given, to temporarily weaken the muscles involved.
Some patients respond to l-dopa, if the dystonia is ‘dopa-responsive’ and this may be given as a first line of treatment to test for this specific type of dystonia.
A range of drugs may be prescribed, ranging from muscle relaxants to mild sedatives, and pain killing treatments.
It is now being recognised that some specialised types of physiotherapy can help - usually in association with botulinum toxin - especially for patients with torticollis.
For some patients with laryngeal or oromandibular dystonia, a speech and language therapist may be able to help modify a person’s speech patterns, or improve chewing and swallowing.
Some complementary therapies have been tried by some people with dystonia, and for those whose symptoms are worsened by stress or anxiety, some therapies that increase relaxation have been found to be helpful. However, there is little clinical evidence for any individual complementary therapy being effective in any specific type of dystonia. Massage has sometimes been found to worsen the symptoms.
Can drugs help dystonia?
If the problem is mild, it may be best to avoid drug treatment. Drugs need to be taken continously 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 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, it may be suggested that you 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.
Deep brain stimulation, used for many years to relieve symptoms of Essential Tremor and Parkinson’s Disease, has recently been used in a number of patients with dystonia. It appears to provide best results in those with the defective ‘DYT1’ gene, who have generalised dystonia.
Nerve section may be used to restore functional vision in blepharospasm, and sometimes to help torticollis. Selective peripheral denervation (SPD), for example, is a technique developed in for some torticollis patients.
For patients with hemifacial spasm, there is a specific procedure that relieves pressure on the facial nerve, and does appear to be effective in many patients.
What age does dystonia start?
In most cases, dystonia begins in adult life, and is more likely to first appear in those over 40, and increasing with age. In the vast majority of these cases, the dystonia remains ‘focal’ (affecting one muscle group), or occasionally spreads to an adjacent muscle group.
A small proportion of cases of dystonia begin in childhood or adolescence. There are estimated to be around 2,000 children (under age 16) with dystonia, either 'primary' dystonia, or secondary to another condition. When primary dystonia starts in childhood or adolescence, it often begins in the legs or arms, and in many cases the spasms spread and the dystonia becomes generalised.
Is dystonia inherited?
The fact that dystonia sometimes affects more than one member of a family makes it clear that inheritance might play an important role. 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% chance of inheriting that gene. However, studies have shown that only about 40% of people who carry the gene go on to develop dystonia - this is known as reduced penetrance.
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 various 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 is 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 causes dystonia?
It is thought 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.
Some people may develop dystonia secondary to other underlying medical conditions. Some patients report that a particular event (for example, a trauma, fall or traffic accident) preceded the onset of symptoms, but there is no evidence that any particular type of event may result in dystonia.
What research is going on?
A great deal of research is going on, both in the UK and worldwide. The basal ganglia have 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.
How can someone with dystonia be helped?
Dystonia in itself is not a life-threatening condition, but the more severe forms can have a devastating effect on a person’s quality of life, often causing considerable pain, affecting their ability to work and the whole family’s everyday life and social activities.
It may be that the dystonia effectively leads to significant disability, and someone affected by dystonia is therefore entitled to the same range of benefits and services that anyone with a disability can access.
Emotional support is also important. Some people find formal counseling helps them work through the impact of dystonia on their lives, and this is available through your GP. Informal emotional support has been found to be beneficial for many people, whether they have dystonia themselves, or care for someone else with the condition. This is available through the Dystonia Society as well as other local support organisations – contact your local Council for Voluntary Services.
The NHS now provides ‘Expert Patient Programmes’ through Primary Care Trusts. These programmes are led by facilitators who themselves live with a long-term medical condition. They are not specific to dystonia, but many people who have joined these programmes have found them very helpful in providing practical solutions to everyday living with a painful and disabling medical condition.
How is dystonia diagnosed?
Although dystonia affects over 40,000 people in the UK, your GP may not have seen it before: or, if he/she has another patient with dystonia, your symptoms may be very different. In addition the movements and postures may be influenced by stress and emotions. There is no single diagnostic test that can confirm dystonia, and the diagnosis is made predominantly on its clinical presentation – that is, what it looks like, feels like, and how the symptoms have developed over time.
In most cases, confirmation of the diagnosis is made by a neurologist specialising in movement disorders; in the case of blepharospasm (around the eyes) may be made by an ophthalmologists, or in laryngeal dystonia (throat) the diagnosis may be made by an ENT specialist.
If dystonia begins in childhood or adolescence, it may be diagnosed by a paediatric neurologist.
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 be predicted.
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 may be given, to temporarily weaken the muscles involved.
Some patients respond to l-dopa, if the dystonia is ‘dopa-responsive’ and this may be given as a first line of treatment to test for this specific type of dystonia.
A range of drugs may be prescribed, ranging from muscle relaxants to mild sedatives, and pain killing treatments.
It is now being recognised that some specialised types of physiotherapy can help - usually in association with botulinum toxin - especially for patients with torticollis.
For some patients with laryngeal or oromandibular dystonia, a speech and language therapist may be able to help modify a person’s speech patterns, or improve chewing and swallowing.
Some complementary therapies have been tried by some people with dystonia, and for those whose symptoms are worsened by stress or anxiety, some therapies that increase relaxation have been found to be helpful. However, there is little clinical evidence for any individual complementary therapy being effective in any specific type of dystonia. Massage has sometimes been found to worsen the symptoms.
Can drugs help dystonia?
If the problem is mild, it may be best to avoid drug treatment. Drugs need to be taken continously 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 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, it may be suggested that you 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.
Deep brain stimulation, used for many years to relieve symptoms of Essential Tremor and Parkinson’s Disease, has recently been used in a number of patients with dystonia. It appears to provide best results in those with the defective ‘DYT1’ gene, who have generalised dystonia.
Nerve section may be used to restore functional vision in blepharospasm, and sometimes to help torticollis. Selective peripheral denervation (SPD), for example, is a technique developed in for some torticollis patients.
For patients with hemifacial spasm, there is a specific procedure that relieves pressure on the facial nerve, and does appear to be effective in many patients.
What age does dystonia start?
In most cases, dystonia begins in adult life, and is more likely to first appear in those over 40, and increasing with age. In the vast majority of these cases, the dystonia remains ‘focal’ (affecting one muscle group), or occasionally spreads to an adjacent muscle group.
A small proportion of cases of dystonia begin in childhood or adolescence. There are estimated to be around 2,000 children (under age 16) with dystonia, either 'primary' dystonia, or secondary to another condition. When primary dystonia starts in childhood or adolescence, it often begins in the legs or arms, and in many cases the spasms spread and the dystonia becomes generalised.
Is dystonia inherited?
The fact that dystonia sometimes affects more than one member of a family makes it clear that inheritance might play an important role. 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% chance of inheriting that gene. However, studies have shown that only about 40% of people who carry the gene go on to develop dystonia - this is known as reduced penetrance.
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 various 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 is 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 causes dystonia?
It is thought 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.
Some people may develop dystonia secondary to other underlying medical conditions. Some patients report that a particular event (for example, a trauma, fall or traffic accident) preceded the onset of symptoms, but there is no evidence that any particular type of event may result in dystonia.
What research is going on?
A great deal of research is going on, both in the UK and worldwide. The basal ganglia have 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.
How can someone with dystonia be helped?
Dystonia in itself is not a life-threatening condition, but the more severe forms can have a devastating effect on a person’s quality of life, often causing considerable pain, affecting their ability to work and the whole family’s everyday life and social activities.
It may be that the dystonia effectively leads to significant disability, and someone affected by dystonia is therefore entitled to the same range of benefits and services that anyone with a disability can access.
Emotional support is also important. Some people find formal counseling helps them work through the impact of dystonia on their lives, and this is available through your GP. Informal emotional support has been found to be beneficial for many people, whether they have dystonia themselves, or care for someone else with the condition. This is available through the Dystonia Society as well as other local support organisations – contact your local Council for Voluntary Services.
The NHS now provides ‘Expert Patient Programmes’ through Primary Care Trusts. These programmes are led by facilitators who themselves live with a long-term medical condition. They are not specific to dystonia, but many people who have joined these programmes have found them very helpful in providing practical solutions to everyday living with a painful and disabling medical condition.