Dystonia is a syndrome of motor activity disorder characterized by prolonged or frequently repeated muscular contractions, often leading to an abnormally fixed posture. Pathological movements may resemble tremor. The disease is often aggravated or aggravated by physical activity, while symptoms may progress to adjacent groups of muscles.
The disorder can be hereditary or caused by other factors such as physical injuries, infections, poisoning (eg lead poisoning), or reactions to pharmaceuticals, especially neuroleptics [1 - Dystonias Fact Sheet: National Institute of Neurological Disorders and Stroke].
Treatment should be strictly adapted to the needs of a particular patient. Can include oral medications, injections, physiotherapy or other supportive therapies. If necessary, surgical procedures can be performed in the form of stimulation of the brain.
The Italian doctor Bernardino Ramaczini made the first description of dystonia in 1713 and published it in the book of occupational diseases "The Morbis Artificum". The report of the British civil service also contained the spells described earlier by the writer.
In 1864, Solly came up with the term "scrivener's palsy" for dystonia, which means "writer's paralysis". These historical reports usually emphasized the importance of motor anomalies as the causes of the disease.
Dystonia was described in detail in 1911, when German Oppenheim, Edward Flatau and Vladislav Sterling described some of the Jewish children who suffered from the syndrome, which were retrospectively treated as family cases of dystonia.
A few decades later, in 1975, the first international conference on dystonia took place in New York. It was then recognized that in addition to severe generalized forms, the dystonia group also includes poorly progressive local and segmental types of primary developmental disorders in adulthood. In such cases there is marked blepharospasm, lacerations and "spasms of the writer". These forms were previously considered to be independent violations and mostly concerned with neuroses.
The modern definition of dystonia was formulated several years later, in 1984. In subsequent years, it became apparent that dystonia syndromes were numerous and varied, so new terminologies were introduced. The clinical picture of dystonia was then fully harmonized and approved.
Dystonia is a symptom complex, while in itself it rarely develops, but basically against other diseases. There are several types of secondary dystonia that arise in various pathological conditions.
The classification of dystonia includes:
- Clinical characteristics of the period of onset, localization, the nature of the symptoms and related symptoms (eg, additional movement disorders or neurological symptoms).
- Causes (often include changes or damage to the nervous system and dysfunctional heredity).
Doctors use a similar classification for diagnosis and treatment appointment.
According to the prevalence of dystonia is:
- Generic Known as Flatau-Sterling syndrome. Often begins to develop from the lower extremities and rises upwards. Characterized by autosomal dominant heredity.
- Focal. The most common, since it can affect various muscles of the body. According to the location, cervical and orotandibular dystonia, as well as occlusive crises, blepharospasm and spasmodic dysphonia are isolated.
- Segmental There are several types of this form of dystonia:
- Hemidistonia - when it hits one half of the body (right or left).
- Multifocal , characterized by the defeat of many and different parts of the body.
- The generalized flow of segmental dystonia , often involving legs and back.
- Acute dystonic reaction.
- Vegetative vascular.
Primary dystonia is associated with genetic anomalies. In particular, there is a group of so-called myoclonic dystonia, where some cases are hereditary and associated with a mutation in the dopamine D2 receptor. Some of these pathologies respond well to alcohol use.
Common types of dystonia
Cervical dystonia, or lupus, is the most common focal dystonia. It has an insidious origin in people aged 30-50 years, although it often begins earlier. Pathology is usually determined in women.
Periodic spasms of the muscles of the neck or abnormal head movements develop due to contractions of the sternocellidomastoid, trapezoid and posterior cervical muscles. This defeat leads to a structured, repetitive and spasmodic movement that causes the head to inadvertently turn (rotational curvature), stretch (retrocollis), bend (anterocollis), or lean to shoulder (laterocollis).
The patient can mark one or more of these movements of the head at one and the same time. It is also common to report psychiatric disorders associated with depression or excessive and severe anxiety. This may be due to the chronic course of the disease, but not to the actual psychopathology.
Dystonia of the upper limb
The dystonia of the upper limb causes cramps and flexion of the elbows, hands and fingers, which results in inability to perform certain professional tasks. The literature describes at least 55 professions in which individuals suffer from this condition. Men and women are ill with the same frequency. The first signs appear most often at the age of 10-50 years.
The usual dystonia of the upper limb is known as a "writer's cramp", a professional cramp or graftospasm. This specific dystonia, manifested by hyperextension or hyperreflexia of the wrists and fingers, may be caused by repetitive actions, such as writing and attempting to play piano or other musical instruments. After cessation of such actions spasm disappears.
The results of general physical and neuromuscular studies are usually not noticeable. Some physicians inadvertently denote these lesions as professional neuroses.
Dystonia of the lower extremities
This can occur with stroke syndrome or dystonia-parkinsonism and lead to painful positioning of the leg, abnormal gait and changes in bone development.
Study by Martino et al. [Footnote 1 by Martino D., Macerolio A., Abbuzzese G. et al. Lower limb involvement in adult-onset primary dystonia: frequency and clinical features. Eur J Neurol. 2009 Sep. 17] showed that dystonia of the lower extremities is an unusual condition for an adult. Evaluating 579 patients with primary dystonia that occurred in adulthood, the researchers found 11 patients (8 women, 3 men) with dystonia of the lower extremities, with pathology defined either separately (4 patients) or as part of segmental / multifocal dystonia (7 patients). In 63.6% of patients, dystonia spread to the lower limb from another affected area, and in the rest of the subjects - directly in the lower limb. The authors noted that 64% of patients need treatment.
Oromandibular and lingual dystonia
Oromandibular, cranial and lingual dystonia are grouped together because of their possible combination. Cranial dystonia, commonly known as Meige's syndrome, is the most common cranial dystonia. Women are more likely to suffer, and the first signs may appear after 60 years.
This term is used to describe a generalized form of dystonia that affects both the body and the limbs. The first signs can be determined in childhood or adolescence, most often in the form of abnormal movements of the limbs after physical activity. Pathological movements differ in degree of severity and frequency of occurrence. In severe cases, the nature of continuous spasms, which lead to distortion of the body, acquire.
At first, the rest helps to remove spasm, but as the disease progresses, the degree of activity and rest does not significantly affect the course of the disease. The shoulders, trunk and pelvic muscles are subjected to intermittent twisting, as well as limbs. The orophasic muscles may also be affected, which leads to dysarthria and dysphagia.
Video Torsion dystonia
Late dyskinesia (late dystonia)
This is a common complication of long-term treatment with antipsychotic drugs due to antagonism of dopamine receptors. The exact mechanism of pathology development is unknown to the end, but the risk increases with age. When the medicine is used for a short time, dyskinesia may not develop. After 6 months of taking medications, the disorder of motion can persist indefinitely. Clinical signs of late dyskinesia include abnormal choreoatetoid movements of the face and mouth, especially in adults (i.e., blepharospasm, ormandibular dystonia). Children are more often affected by limbs.
A primary dystonia is said to be the case when its symptoms are unique and it is impossible to establish the exact cause of the disease. Also, in determining the structural anomaly of the central nervous system, the suspicion falls on primary dystonia. Researchers explain this by the fact that the pathology of the central nervous system probably arises in those parts of the brain that are associated with the motor function.
Secondary dystonia develops on the background of various pathological conditions:
- head injuries;
- side effects of the drug (for example, late dystonia)
- Neurological disease (for example, Wilson's disease).
Meningitis and encephalitis caused by viral, bacterial and fungal infections of the brain may also be accompanied by dystonia. The main mechanism of its development is inflammation of the blood vessels with subsequent restriction of blood flow in the basal ganglia. Other mechanisms include direct damage to the nerve by microorganisms or their toxin or autoimmune processes affecting nerve fibers.
Factors for the development of various forms of dystonia:
- Often associated with the environment, especially expressed when necessary to perform precise movements with your hands. The same applies to musicians, engineers, architects and artists.
- Chlorpromazine may cause a pathology that manifests itself as an acute dystonic reaction.
- Neuroleptic drugs often cause dystonia, including ocular crisis.
- The disruption of the sodium potassium pump may provoke the development of some dystonia.
Thus, traditionally, dystonia is considered as basal ganglion dysfunction, although provocative data on the involvement of the cerebellum in the pathophysiology of this mysterious disease have recently appeared. This factor has not been fully studied, therefore, as long as the role of the cerebellum in the genesis of dystonia is not fully understood, it is difficult to significantly improve existing standards for the treatment of dystonia or to provide prophylactic treatment.
In dystonia, the clinical picture is very diverse. Much depends on the particular form of dystonia, and there are general signs that are characteristic of virtually all types of disease.
- Abnormal poses in the body
- Strange traffic at first sight
- Permanent pain in parts of the body most prone to dystonia
- Spontaneous and agonizing muscle cramps
Early signs of dystonia:
- The loss of precise coordination of the muscles (sometimes it manifests itself in lowering the quality of the letter, sudden release of the subject, disturbance of fine motor skills).
- Significant muscle pain and convulsions, which can be the result of very insignificant loads, such as the rotation of the book page.
- It is difficult to find a comfortable position for hands and feet, even with insignificant loads associated with holding crossed hands. Such actions can cause considerable discomfort.
- A tremor in the diaphragm during breathing or the need to put your hand in your pockets or under your feet in the sitting position or under the pillow during sleep. This helps keep your hands stationary and reduce pain.
- Jitter in the jaw which can lead to grinding and premature wear of the teeth, or to symptoms similar to the disorder of the temporomandibular joint.
- The voice becomes brittle or rough, with frequent cleaning of the throat.
- Swallowing may become difficult and accompanied by painful seizures.
Symptoms become more pronounced when used, especially in the case of local dystonia, "mirror effect". For example, working with the right hand can cause pain and cramps in this hand, as well as in the other hand and legs that were not involved at that time. Stress, anxiety, lack of sleep, prolonged physical activity and cold temperatures can worsen the patient's condition.
In some cases, the dystonia clinic may progress, and then for many years there is a stabilization of the condition or no signs at all. Progression may be delayed by treatment or adaptive lifestyle changes, while physical activity often increases the severity of symptoms.
Under other circumstances, the signs may progress to the full disability of the patient, which makes some of the most risky forms of the disease deserving special attention. Sometimes traumatic injury or general anesthesia during an unrelated disease causes a dystonia and rapid deterioration in the patient's condition.
In dystonia, as with all other neuromuscular disorders, the history of the disease must be studied and a physical examination of the patient should be performed. Heredity is important; which in 44% of patients is defined as unfavorable as relatives (close and distant) have a movement disorder.
Dystonia can be a clinical manifestation of many treatable neurological conditions; Therefore, careful screening is done to exclude Wilson's disease, brain hypoxia, brain trauma, Huntington's disease, Lee's disease, Parkinson's disease.
A number of drugs can cause acute dystonic movements, so the list of medications taken by the patient must be explored. This will help to identify or exclude iatrogenic causes. Drugs that can provoke motor activity disturbances and cause dystonia include, but are not limited to, the following:
- Dopamine antagonists
- Anti-epileptic drugs
- Valproic Acid
- Dopamine agonists
- Monoamine oxidase inhibitors (MAO)
- Adrenergic means
- Beta agonists
- Tricyclic antidepressants
- Oral contraceptives
Various laboratory studies are used as additional studies . In particular, the blood test is performed, the liver function is evaluated, the level of ceruloplasmin and copper is determined. Daily urine analysis may also be performed.
Magnetic resonance imaging (MRI) and computed tomography (CT) are needed to scan the brain, which is especially important in the examination of children. They can help identify hypoxic, hemorrhagic or tumorous lesions. Sometimes an ocular gap is conducted to determine the Kaiser-Fleischer rings.
Genetic screening is used to determine the anomaly of the DYT gene. Additionally, genetic counseling is needed for patients with primary dystonia up to 30 years of age or those with dystonia who have dystonia.
Electromyography of the lower and upper extremities (EMG) is conducted to determine the functional capabilities of the nerves, muscles and neuromuscular transmission paths. This method can be studied both by adults and children.
Helping patients with dystonia include various methods of exposure. First of all, medical treatment is being carried out, which is necessarily supplemented with rehabilitation therapy.
Systemic drugs benefit from about one third of patients and include various broad-spectrum drugs:
- Preparations from parkinsonism
Drug therapy is often carried out using several drugs at the same time, and the choice is usually carried out by empirical studies and taking into account side effects. Doses are usually slowly increased for weeks or months until the desired therapeutic effect is achieved. In most patients, discontinuation of medication requires gradual withdrawal, which prevents unwanted symptoms.
Neurochemical procedures and muscle blocks
Botulinum toxins or injections of phenol / alcohol have become powerful tools for symptomatic treatment of focal dystonia. These injections temporarily reduce the muscle's ability to compress and may be preferred for the treatment of blepharospasm, cervical dystonia and hemifacial spasm.
Botulinum toxins are produced by the Gram-negative bacterium Clostridium botulinum and act by inhibiting the presynaptic release of acetylcholine in the neuromuscular compound. Of the seven immunologically excellent serotypes of botulinum toxin, only types A and B are approved for clinical use.
Main features of botulinum therapy:
- The effect after the injection of botulinum toxin is observed for several days.
- Local injection of botulinum toxins into injured muscles reduces muscle contraction by about 3 months.
- Treatment is not associated with significant complications, although dysphagia and dry mouth may be observed.
- Medications can be used for many years with constant effectiveness.
- Botulinum toxin injections are quite expensive, but in spite of this, most patients require their re-administration.
Muscle blocks containing phenol and alcohol are also temporary means of exposure, but they last for about 6 months and are significantly cheaper. Nevertheless, such drugs can only be introduced into individual nerves, and in order to avoid side effects, an experienced specialist is needed.
Video Introduction Botox for cervical dystonia under EMG control
The complexity of the dystonia may depend on fatigue, anxiety, relaxation, or sleep. Thus, attention to general health, the environment and stress factors can make dystonia more manageable.
Dystonic movements are often exacerbated or provoked by voluntary or intentional activity of the same or other parts of the body. At that time, involuntary movements may be temporarily suppressed by a contact stimulus, for example, by placing the arm on the ipsilateral or contralateral side of the face or neck of the patient with spasmodic cervix.
Some dystonia attacks can last for seconds or minutes, while others bother for several hours or even weeks. They can lead to constant contractions, bone deformities or severely impaired limb function. Proper use of hands and feet, as well as orthopedics to support, guide, reduce or stabilize movements can help prevent orthopedic deformation.
Methods of physical therapy (for example, massage), slow stretching and physical modalities (eg, ultrasound, biological feedback) are sometimes useful for people with focal or regional dystonia. Patients with generalized dystonia often benefit from gait and mobility training, as well as training on the use of auxiliary devices.
Different types of therapy and modality are used with limited success in the symptomatic treatment of dystonia. These include:
- relaxation training;
- sensory stimulation;
- biological feedback;
- stimulation of percutaneous electrical nerve;
- stimulation of transdermal dorsal column.
Professional rehabilitation can help people in retraining or, if necessary, adapt to the workplace.
Rehabilitation therapy is an important means of educating patients in daily activities. It is also important for proper positioning and sitting in patients whose mobility is disturbed. Adaptive equipment should be provided to enhance functionality. Speech therapists can also offer training and communication aids to patients with ormandibular or laryngeal dystonia. Similar exercises can help prevent complications in patients with temporary dysphagia caused by injections of botulinum toxin.
If dystonia first manifested itself in childhood, in many cases it spreads to other parts of the body and takes a generalized form. Dystonia, which developed in the adult period, has different characteristics and is usually limited to local lesions (focal dystonia). In such cases, the pathology rarely extends to other parts of the body.
Sometimes dystonia may regress or disappear without apparent reason. The probability of this is extremely low and arises unpredictably. In some cases, dystonia returns after a period of remission, but in rare cases, patients remain without symptoms for the rest of their lives.
Specific prophylaxis of dystonia does not exist, therefore, in the presence of a genetic predisposition to development of motor activity disorder, performing work related to the risks of muscular dystonia, most often recommend to adhere to a healthy lifestyle:
- Do not have bad habits in the form of smoking and drinking alcohol.
- It is right to eat, with the use of more vegetables and fruits, fish and dairy products.
- Regularly perform a physical exercise, which the doctor will advise if necessary.
- More often stay in the fresh air.