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Generalised dystonia, is a rare form of dystonia that is usually early-onset (most often appearing in late childhood / early teens). Typically, the condition starts in a limb and then ‘generalises’ to other areas. Involuntary spasms can occur in a foot or leg and then progress to include other limbs and the trunk. In most cases, symptoms progress and stablise within a 5-year period. Cases of generalised dystonia starting after the mid-twenties are unusual. Symptoms may include:
Generalised dystonia can either be primary where there is no identifiable cause other than genetic factors or secondary where there is an underlying cause such as another medical condition, drugs or a stroke. Primary generalised dystonia is often caused by a mutation in the DYT1 gene. If someone inherits this mutation there is 30% chance they will develop DYT1 dystonia. If a carrier reaches the age of 30 without developing dystonia there is a good chance the dystonia never will develop. Testing for DYT1 is technically easy.
There are a number of other genes which cause primary early-onset generalised dystonia including the DYT5 gene which causes a rare type of generalised dystonia highly responsive to treatment by dopamine called dopa-responsive dystonia.
If no genetic cause can be identified, the physcian will explore if the dystonia is ‘secondary’ ie. is there an identiable cause? This may involve a MRI scan of the brain and testing for other rare conditions such as Wilson’s disease (a treatable genetic condition in which the body does not process copper properly) or neuronal brain iron accumulation syndrome (NBIA – a genetic degenerative condition in which iron is deposited in the basal ganglia).
There is currently no known cure for dystonia but treatment options are available. Treatment differs between individuals but the goal of all treatments is to reduce the symptoms.
Oral medications will generally be tried first. A trial of levodopa (usually for at least 2 months) is appropriate in all early-onset primary dystonia to identify dopa-responsive dystonia. If this is ineffective, an anti-cholinergic drug such as trihexyphenidyl can often be helpful in controlling muscle spasms and tremor. Second line treatments may include clonazepam (a strong muscle relaxant) or tetrabenazine (helps to control tremor and involuntary spasm) and baclofen (an effective muscle relaxant). A combination of medications is often advised by the neurologist. These drugs can have side effects which you should discuss with your doctor.
Regular injections can sometimes be helpful in reducing symptoms in some isolated areas that are affected by dystonia such as the jaw, hands, feet or leg.
A surgical technique known as deep brain stimulation can provide sustained benefit in some cases. It works by inserting fine electrodes in the brain to damp down the spurious signals causing the muscle spasms. Selection of patients is done carefully with extensive testing to ensure the patient’s condition is likely to benefit from the surgery.
The degree of pain varies greatly between people with dystonia from no pain to severe pain. Treatment can often relieve pain. However, the emotional impact of dystonia may make pain worse. Anxiety, depression and other emotions interact in complex ways with pain, for example by decreasing the body’s production of natural painkillers. Management of the pain can provide physical and emotional benefits. Many people find significant relief from treatments to manage painful symptoms provided by specialists in pain management so referral to these specialists is important.
Coping with dystonia can be done most successfully if the person affected by dystonia (and, where appropriate, their carers) actively manages the condition. Everyone is different and so what this means in practice will vary from person to person. To manage dystonia effectively, people affected by dystonia need information about all aspects of the condition. This can enable them to take control and become the actor of their condition. Click here to read more about managing dystonia.
For more information, call our helpline on 0845 458 6322.
To read case studies of individuals with generalised dystonia that have been featured in Dystoniamatters! click on the links below:
Last reviewed December 2011
The Dystonia Society provides the information on this page as general information only. It is not intended to provide instruction and you should not rely on this information to determine diagnosis, prognosis or a course of treatment. It should not be used in place of a professional consultation with a doctor.
The Dystonia Society is not responsible for the consequences of your decisions resulting from the use of this information, including, but not limited to, your choosing to seek or not to seek professional medical care, or from choosing or not choosing specific treatment based on the information. You should not disregard the advice of your physician or other qualified health care provider because of any information you receive from us. If you have any health care questions, please consult the relevant medical practitioner.