frequently asked questions

Why haven’t I heard of Dystonia before?
Who does Dystonia affect?

What are the causes of Dystonia?
Who treats Dystonia
What should I do to prepare for my appointment?
How do doctors diagnose Dystonia?
What treatments are available?
Do drugs help?
Is surgery an option?
What is my prognosis?
Will it be passed on to my children?
What is Spasmodic Dysphonia?
What causes Spasmodic Dysphonia?
What research is being done for SD?
How is SD diagnosed?
What can be done for people with SD?
What is Cervical Dystonia?
What are the different forms of Cervical Dystonia?
Living with Cervical Dystonia?
Glossary
Downloadable brochure - Dystonia: FAQ (pdf 157KB)

WHY HAVEN’T I HEARD OF DYSTONIA BEFORE?

It was only half-way through the last century that dystonia was recognised as a physical (organic) condition, and different forms were identified as manifestations of the same illness. In spite of this, dystonia often remains often misunderstood, misdiagnosed and therefore mismanaged. Research from the United States indicates that dystonia is as common as multiple sclerosis in certain areas of the world including parts of the Australia. However, there is little literature that provides adequate information about dystonia or explains its effects on those who live with the condition.

WHO DOES DYSTONIA AFFECT?

Dystonia affects men, women and children of all ages and backgrounds. It can develop in childhood and is often particularly disabling for children. Dystonia may be genetic or caused by factors such as physical trauma, exposure to certain medications, or other neurological conditions.

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 immobile, 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 pinpointed, the dystonia is said to be idiopathic. Depending upon the type of dystonia, the specialist may decide to carry out blood tests or scans in an attempt to determine the cause.

WHO TREATS DYSTONIA?

A Specialist Neurologist who has a special interest in movement disorders is the best person to diagnose, treat and understand your special needs. He/she will discuss with you the treatment that is available and answer the many questions you may have about your new diagnosis.

Your General Practioner (GP) will be able to refer you to one of these specialists. Between visits to your specialist you will be looked after by your GP and he will make contact with the specialist should there be any problems in this time. You may find that if your GP has no other patients with your type of dystonia, he/she may well learn most about the condition from treating you.

WHAT SHOULD I DO TO PREPARE FOR MY APPOINTMENT?

If you’ve kept a brief diary of your symptoms prior to diagnosis this may prove useful to the person examining you. Bring any recent test results or scans. It’s a good idea to write down a list of questions – that way you’ll be sure to cover all of the issues that are concerning you during the consultation. Lastly, it often helps to take a friend or relative with you to act as a second pair of eyes or ears. You’ll then have someone else to help with the details of the consultation if you need to remember some vital information later on.

HOW DO DOCTORS DIAGNOSE DYSTONIA?

Currently there is no specific laboratory test or imaging that reliably confirms a diagnosis of dystonia. Instead, the diagnosis of dystonia rests largely on the clinical picture including the patient’s account of symptoms, their medical background and the physical examination. For a doctor to diagnose a form of dystonia they need to be able to recognise the physical signs and be familiar with the symptoms. Further tests may be ordered but in many cases these will be normal.

WHAT TREATMENTS ARE AVAILABLE?

For focal dystonias, including blepharospasm, spasmodic torticollis, oromandibular dystonia, spasmodic dysphonia 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. Speech therapy has been shown to prolong the effects of Botulinum toxin through reducing compensatory speech patterns (Murry and Woodson, 1995). Many other types of treatment have been tried. Unfortunately there is little evidence that acupuncture, homeopathy or diet produce any lasting benefit. Some patients, however, do feel that such treatments lessen stress, which in turn can reduce muscle spasms.

DO DRUGS HELP?

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, but if one drug doesn’t work you may need to try a series of different drugs to discover which is best for you, offering the greatest relief but producing the least side-effects.

IS SURGERY AN OPTION?

In the past, surgical options have included selective cervical denervation, thalamotomy, and pallidotomy. The growing adoption of deep brain stimulation for the treatment of intractable movement disorders has led to the emergence of pallidal stimulation as the surgical therapy of choice for many patients with dystonia. Published series have supported the efficacy of chronic globus pallidus internus (GPi) stimulation in the treatment of this group of abnormal involuntary movement disorders, however, the long-term outcome and pattern of clinical improvement is yet to be ascertained.*
*Deep brain stimulation for generalised dystonia and spasmodic torticollis,
Richard G. Bittar et al, Journal of Clinical Neuroscience 2004, Published by Elsevier Ltd. doi:10.1016/j.jocn.2004.03.025

WHAT IS MY PROGNOSIS?

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, is generally confined to a local area (focal dystonia) and is less likely to spread to other parts of the body.

WILL IT BE PASSED ON TO MY CHILDREN?

The fact that dystonia sometimes affects more than one member of a family makes it clear that inheritance can play 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.

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 only located 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 the gene is, and how it causes dystonia.

WHAT IS SPASMODIC DYSPHONIA?

[Text adapted from SDSG pamphlet: Spasmodic Dyusphonia: The facts and the St Vincent’s Hospital patient information leaflet: Spasmodic dysphonia and Botulinum toxin treatment]

Spasmodic Dysphonia (SD) is an uncommon voice disorder which has a significant impact on the quality of life of the sufferer. It is classified as a dystonia, which is a task-specific neurological movement disorder. Involuntary contractions of the muscles of the larynx occur during specific vocal activities such as speaking but not during laughing or yawning. SD is sometimes called laryngeal dystonia.

Dystonia is a disorder of movement, which need not involve any other functions of the brain. Thus intellect, personality, memory, emotions sight, hearing and sensation are all quite normal in people with SD.

Most frequently, SD causes involuntary closure of the vocal cords, which results in effortful speech with a tight, strained/strangled quality and abrupt breaks in voicing (adductor SD). There is a rarer form of SD where the vocal cords open involuntarily during speech causing intermittent breathiness (abductor SD).

Spasmodic Dysphonia affects men and women of all ages, in all walks of life. Interruption of free flowing speech can profoundly influence social and professional interaction and emotional well-being, and cause feelings of isolation and despair.

WHAT CAUSES SPASMODIC DYSPHONIA?

The cause of SD remains undetermined, but it is often triggered by stress or illness. Research suggests that a chemical imbalance in the basal ganglia, an area of the brain involved in coordinating movements of muscles throughout the body, is responsible for SD. As with other dystonias, fatigue or stress tends to make the problem worse.

WHAT RESEARCH IS BEING DONE FOR SD?

The ultimate goals of research are to discover the cause of SD so that the disorder can be prevented and to find a cure or improved treatment method for people affected. Scientists are exploring better treatments and testing to see how to extend the benefit from current therapies for SD.

HOW IS SD DIAGNOSED?

SD is rare and symptoms can be confused with a number of voice disorders. Accurate diagnosis requires assessment by a Speech Pathologist, ENT Specialist and a Neurologist experienced in the management of SD.

WHAT CAN BE DONE FOR PEOPLE WITH SD?

Firstly, an accurate diagnosis is essential. This in itself reduces frustration and anxiety and opens up several treatment options. After performing a detailed laryngeal examination, the Ear Nose & Throat Specialist refers people with SD for further management.

The Speech Pathologist is involved in assessment, diagnosis and treatment of SD and will provide information, encouragement and ideas to help people manage more effectively. Voice therapy can be beneficial for some people with SD and has been shown to prolong the effects of Botulinum toxin through reducing compensatory speech patterns (Murry and Woodson, 1995). As most people find that their symptoms are aggravated by stress and fatigue, stress management or relaxation therapy may help some people to cope more easily with their symptoms.

The Neurologist may trial certain medications where appropriate, or administer local injections of Botulinum toxin.

Local injection of Botulinum toxin into the vocal cord muscles can provide significant, though temporary relief from the symptoms of SD and a marked improvement in voice quality. Botulinum toxin weakens the overactive muscles for approximately 3-4 months, after which time reinjection is necessary.
[Last paragraph only from SD Victorian Eye and Ear Hospital pamphlet]

WHAT IS CERVICAL DYSTONIA?

Cervical dystonia (CD), often referred to as spasmodic torticollis, is a particular type of focal dystonia that affects the muscles of the neck. It presents in different forms as follows: torticollis, laterocollis, anterocollis and retrocollis.

Spasmodic Torticollis is the term commonly used to describe all forms of cervical dystonia. You may find other terms being used to describe your condition and this can be confusing. An explanation of these terms and explanatory diagrams are given below.

Many people will have more than one type of cervical dystonia. For instance, an individual with torticollis may also suffer from anterocollis.

As the muscles of the neck are overactive, the sufferer’s posture may be affected causing pain and stiffness in other muscles not directly affected by the dystonia.

Information in the USA suggests that as many as 30 in 100,000 people have cervical dystonia. Accurate statistics are difficult to report because of those sufferers who continue to go undiagnosed in the community. The figure, therefore, may well be higher.

Cervical dystonia is reported as more common in females and affects people of all ages though it usually occurs in the 40-50 age-group.

There are many different degrees of disability. Where some people with cervical will have few symptoms and little pain, others may suffer a high degree of disability and chronic pain, requiring treatment. Similarly, some sufferers have much fewer symptoms in the morning, particularly early in the disease, and symptoms return as the day goes on allowing more function early in the day.

There is no known cure for cervical dystonia. However, treatments that can improve life for the sufferer do exist.

WHAT ARE THE DIFFERENT FORMS OF CERVICAL DYSTONIA?

Torticollis: the most common of the cervical dystonias. The chin and nose rotate to one side and may stay in this position (tonic) or may turn to the side only intermittently and then released (clonic). A tremor of the head may also be seen. The muscles most commonly involved are the splenius capitis, trapezius and levator scapulae on the same side and the sternocleidomastoid on the opposite side.

Laterocollis: this is the second most common cervical dystonia. The head is pulled to one side and down to the shoulder. Sometimes one shoulder lifts up. The muscles most often responsible are the splenius capitis, scalene, trapezius, levator scapulae. In this instance the sternocleidomastoid of the same side may be involved. The individual has difficulty maintaining the head in a central position and has even more difficulty turning the head to the other side.

Anterocollis: the chin is pulled down towards the chest. Both sternocleidomastoid and scalene muscles are often involved. This may cause problems with swallowing, speaking, socialising and vision.

Retrocollis: the head is pulled backwards towards the spine. The muscles usually involved are the neck extensors. Again communication, vision and swallowing may be affected.

LIVING WITH CERVICAL DYSTONIA

Quality Of Life Factors
Some people with a mild form of cervical dystonia may have little in the way of day to day problems, but for some sufferers their condition has an impact on many aspects of their life. Since the treatments available for CD rarely solve all of the problems, it’s largely up the individual to find solutions which improve their comfort.

Workplace
Make sure your workplace is as safe and comfortable as possible for you, by making changes to equipment and furnishings. Take into consideration your limitations in mobility and vision. Choose someone you can confide in comfortably and tell them about your condition. Whether you tell others or not is a personal choice. Do not be embarrassed if you should bump into things a little more frequently than others. A simple apology will suffice. Show a good work ethic and that you are willing to work with others and you will be admired for who you are.

Family
Families can provide an effective support system for the sufferer. Remember that they need you to confide in them or they will not be able to recognise your needs. Share the good times as well as the bad and consider their feelings regarding the changes to your lifestyle. Discuss the changed roles in the household relative to your condition.

Self
Consider your needs as well as the needs of others. Take all measures to keep yourself in good physical and mental health. It is important to keep pain under control and reduce your symptoms wherever you can. As is the case with any long-term illness, a positive attitude will enhance a sufferer’s quality of life.

Social Interaction
The symptoms of CD can be more obvious when walking, holding a particular posture, or when the person is feeling anxious or stressed. This poses problems in the social setting. Sufferers often feel that all eyes are upon them, but this is rarely the case. It is more likely true that they are more aware of their body than an observer. People must learn to cope with this problem in their own way. Some people prefer to ignore their disability while others prefer to tell people of their condition at the first meeting. It is important that social activities be maintained in such a way as to prevent social isolation.

Driving
CD can adversely affect an individual’s ability to drive safely. However, modifications can often be suggested, for instance adjustments in mirrors or additional mirrors or a change in the seating position. This is well worth pursuing as driving equals independence for many sufferers.

‘Sensory tricks’ or ‘gestes’
Many sufferers have trigger spots, usually on the face or head, which they can touch and their neck and head will return to normal, or near normal posture for a time. Sometimes even just thinking about the gesture will achieve the same objective. It is not known how or why this mechanism works, but it can assist the sufferer in both comfort and in social situations. There is promising research about the potential of using ‘sensory tricks’ for future treatments. Some people find that posturing and positioning themselves in a certain way will also help them regain control of their necks and hide their disability. Ensuring you always sit in a position that is advantageous to you, whether at the theatre, a dinner party, or engaged in general conversation, will help your confidence in a social situation and allow you maximal vision. This also minimises spasm as you do not have to adopt a forced posture.

 

WHAT IS BOTULINUM TOXIN?
Botulinum Toxin Type A is a protein molecule produced by the bacterium
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