Dystonias are movement disorders that are caused in the brain. They manifest as involuntary and persistent muscle tension, unusual postures and uncontrollable movements. It is not curable, but there are treatment options that reduce the symptoms: drug therapy, botox injections, surgery (DBS, denervation), and physiotherapy.
Dystonia is a neurologically induced movement disorder that causes involuntary muscle contractions and spasms. As a result, patients are not able to change their position on their own. It is possible only with considerable effort and physical pain. Even then, it is not always successful. Also, muscle contractions often force the body to make repetitive movements.
There are more than 13 types of dystonia; depending on the form, the disease can lead to varying degrees of pain and disability. The main ones include:
- Torsional dystonia (idiopathic generalised dystonia, deforming muscular dystonia) often begins during puberty, but a later onset is also possible. In the first stages, it can manifest as a local form — the changes in tone and hyperkinesis in the leg, less often in hand, with gradual, slow generalisation. In the course of the disease, spontaneous remissions are sometimes found.
- Cervical dystonia (spasmodic torticollis) is a variant of focal dystonia, manifested by two main phenomena: a pathological position of the head and involuntary movements of the neck muscles. Torticollis in adults or children is formed by damaging the sternocleidomastoid muscle, which is directly involved in nodding, tilting and turning the head.
- Hyperkinesis or dyskinesia occurs in any part of the body and limbs where there are muscles. They are represented as involuntary muscle contractions and are challenging to control volitionally. Similar movements occur on the face, neck, larynx, eyes, tongue, vocal cords, diaphragm, shoulder girdle, and limbs. At the same time, starting in one muscle group, they often move to other body parts.
The disorder affects people indiscriminately, men, women, and children of all ages and races. After Parkinson's disease and tremors, dystonia is the most common disorder. The condition is chronic and not directly related to decreased life expectancy.
What can be the explanation for dystonia?
Research shows that dystonias occur when the brain can no longer correctly read the commands to activate specific muscles. This disorder would be associated with dysfunction of the internal pallidum, a deep brain region.
Many neurological diseases or damage to the central nervous system can lead to dystonia. Possible triggers of secondary dystonia include:
- Parkinson's disease;
- Brain tumours;
- Inflammation of the brain (encephalitis);
- Lack of oxygen at birth (perinatal hypoxia);
- Metabolic disorders such as Wilson's disease (copper storage disease).
Dystonia can also occur as a long-term side effect of certain medications. These primarily include psychotropic and classic neuroleptics drugs that affect the central nervous system. In some primary dystonias, genetic connections have also been demonstrated. However, no hereditary causes are known for most forms.
Most common signs of dystonia
There are two types of the disease:
- Generalised dystonia is almost always genetic, and it affects several parts of the body.
- Focal or local dystonia usually affects only one body part (neck, face, skull area). Among local dystonias, occupational dystonia usually occurs in adults engaged in professional activities due to painful spasms (pianists, golfers, editors, or aphonia among teachers).
Signs and symptoms vary depending on the form. In most cases, dystonia usually leads to an abnormal posture, especially when moving. Many suffer from constant pain, cramps and unrelenting muscle spasms due to involuntary movements. Other motor signs are also possible:
- The head repeatedly convulsively tilts to the side;
- Twisting of hand and fingers in screw-like motion;
- Rapid shaking (tremor) of the affected parts of the body;
- Pain (with pronounced dystonia);
- Damage to the joints due to continued incorrect positions, later limitation of mobility;
- Involuntary muscle spasms;
- Difficulties with comfortable positioning of arms and legs.
Direct signs can be accompanied by secondary effects, including sleep disturbances, exhaustion, mood swings, mental stress, difficulty concentrating, impaired vision, and digestive problems. People with dystonia can also become depressed and have difficulty adjusting their activities and livelihoods to their increasing disability. In some cases, symptoms may progress for years or stop altogether.
How should dystonia be diagnosed?
Currently, there is no single standard or diagnostic test for dystonia. To make a diagnosis, the doctor must know the patient's history and investigate any family illnesses. Then, the neurologist prescribes the necessary laboratory and instrumental studies to exclude other diseases and for differential diagnosis. Therefore, it is possible to list the main stages of the diagnostic process when dystonia is suspected:
- Collection of anamnestic data, neurological and somatic examination. It gives the doctor an understanding of the patient's general condition, the disease's severity, and damage to other organs and systems of the body.
- Brain imaging (CT/MRI scans) can detect inflammatory diseases in the early stages, as well as track minimal changes in brain tissue. With the help of CT and MRI, it is possible to obtain layer-by-layer slices of the brain in different planes, followed by high-resolution reconstruction and 3D modelling.
- Electroneuromyography is a diagnostic method that studies the electrical activity of the peripheral nervous system. At the same time, depending on the purpose of the examination, the activity of the neuromuscular apparatus is evaluated, both involuntary and caused by irritation.
- Blood tests - general, biochemical analysis, coagulation control. Possible changes in indicators show the presence of complications or pathology of a different nature (liver, blood system, cardiovascular or excretory system).
- Molecular genetic research. In the case of neurological diseases that do not have a clearly defined cause (including idiopathic dystonia), it is essential to study possible lesions of DNA and genetic material.
Only an experienced neurologist can determine the type of dystonia and confirm the diagnosis using many diagnostic procedures. This path is complicated and requires the perspective and experience of a good doctor. That is why it is very important to consult a specialist in time to start appropriate treatment as soon as possible.
Treatment options for dystonia
Therapy of the disease aims to correct spastic symptoms, reduce pain, and improve the quality of patients' lives. But unfortunately, there is no specific standard therapy that can cure dystonia.
Drug treatment is the most studied and effective way to reduce the symptoms of the disease and stop its progression. So the doctors try to find an effective combination for a particular person. However, not all people respond well to the same medications.
- Anticholinergics (benztropine, trihexyphenidyl, ethopropazine) act as inhibitors of the neurotransmitter acetylcholine and play an essential role in muscle activation.
- Muscle relaxants (clonazepam, benzodiazepine) are also prescribed. However, their effects are limited for most, and side effects such as mental confusion, sedation, mood changes, and short-term memory loss occur.
- Neurologists can also cure some types of dystonia (dopamine-responsive) with L-DOPA in a form such as Sinemet (carbidopa/levodopa). Although it cannot cure the disease, it mainly relieves the symptoms.
- Botulinum toxin injections into the affected muscles have been quite successful, providing some relief for about six months. In addition, Botox injections are available (the same form is used for cosmetic surgery), and their effects are not permanent.
- Baclofen has been used to treat patients of any age who exhibit muscle spasticity. The pump delivers baclofen through a catheter into the flow space surrounding the spinal cord. It can be periodically replenished by access through the skin. Patients can also take baclofen in pill form.
According to some researchers, a ketogenic diet may help reduce symptoms associated with alternating hemiplegia of childhood (AHC).
Surgical treatment is indicated for those patients who do not respond to medical methods:
- Stereotaxic operations: sagittal thalamotomy with the destruction of the anterior and posterior ventral oral nuclei, pallidotomy. In this way, neurosurgeons remove those areas that have the most significant impact on the occurrence of dystonia.
- Deep brain electrical stimulation (DBS) of the internal pallidum is a method of treating neurological disorders by stimulating the brain with special impulses. Thus, it reduces muscle spasms, abnormal posture, and involuntary movements.
- Peripheral denervation is the removal of motor and sensory roots of the spinal cord, which are responsible for movement disorders in certain groups of muscles. For example, neurotomy of the neck nerves in combination with muscle myotomy is a treatment option for the syndrome spastic torticollis.
Additional therapy aims to alleviate symptoms based on relaxation methods (yoga, Pilates), sometimes associated with acupuncture. There are reasons to believe that rehabilitation can benefit patients with dystonia. Physical therapy may be used to manage changes in balance, mobility, and general function resulting from the disorder. Potential treatment interventions include splinting, manual stretching, soft tissue and joint mobilisation, postural training, activity and environmental modification, and gait training.
Dystonia: expectations and prognosis
Dystonia can take very different courses. In some of those affected, the symptoms disappear entirely within the first three years (remission). However, it may recur later.
In other cases, the symptoms steadily increase over three to five years before the clinical picture stabilises. The problem is often the pain, which can also increase regardless of the severity of the dystonia. In addition, the poor posture often puts strain on the joints, and it can lead to joint problems.
For the overwhelming majority, it is not fatal and does not shorten life expectancy. However, the condition tends to be progressive and can become generalised or multifocal. In this case, when dystonia affects many body areas, problems that are secondary to dystonia and require emergency care can arise.
It is impossible to say the precise prognosis for patients with dystonia because each case is unique. However, we can confidently say that a correctly selected treatment scheme dramatically impacts.
What treatments are available for dystonia?
The most optimal option for patients is drug treatment: botulinum toxin, baclofen, anticholinergic drugs, muscle relaxants, and dopaminergic medicines. However, surgical methods are now available for patients who do not have the expected effect of medications. Such operations include deep brain stimulation, peripheral denervation, and stereotaxic interventions to remove part of the brain.
Is surgery the best option for dystonia treatment?
Currently, botulinum toxin injection (70% effective) shows the best results in treating dystonia. However, surgical treatment is the next stage in case of inefficiency of medication. In addition, surgical interventions have their contraindications and side effects.
Why might treatment abroad for dystonia be better?
Medical tourism is now prevalent among patients. It is due to the low level of medicine in the native country, outdated equipment and the lack of necessary certified drugs. Therefore, neurological patients turn to foreign clinics for high-quality and qualified diagnosis, treatment and rehabilitation. All the latest research, modern medicines and the most experienced doctors are in the leading clinics of Europe, the USA and Israel.
What doctor can treat dystonia?
A neurologist is the primary doctor who detects dystonia, confirms the diagnosis and prescribes the necessary treatment plan. Already during therapy, neurosurgeons (if surgery is needed) and physiotherapists (for effective rehabilitation) join the process.
What is the name of dystonia surgery?
Modern methods of surgical treatment of dystonia include deep brain stimulation (electrical stimulation of the internal pallidum), peripheral denervation (the removal of nerves) and stereotaxic operations (sagittal thalamotomy, pallidotomy).
Where can I get Dystonia treatment?
What are the best clinics for Dystonia treatment?
Who are the best doctors for Dystonia?
Prof. Dr. med. Christian E. Elger from Beta Clinic Bonn
Prof. Dr. med. Bernhard Meyer from University Hospital rechts der Isar Munich
Prof. Dr. med. Bernhard Hemmer from University Hospital rechts der Isar Munich
Dr. med. Peter Madjurov from Academic Hospital Bundeswehr Berlin
PD. Dr. med. Florian Masuhr from Academic Hospital Bundeswehr Berlin