Torsion dystonia. Clinic, diagnosis, treatment, prognosis

Torsion dystonia(Latin torsio, torsionis rotation, twisting; Greek dys- + tomos tension; synonyms: torsion spasm, deforming muscular dystonia, progressive torsion spasm) is a chronic progressive disease, which is based on damage to the extrapyramidal system. characteristic feature Etc. is a changing, uneven distribution of muscle tone in certain parts of the body, accompanied by a kind of hyperkinesis, often with rotational movements. The disease is rare. Men are more often ill.

In the etiology of T. d. hereditary factor. The type of inheritance is different. In some families, the disease is inherited in an autosomal dominant manner, in others, which is more common, in an autosomal recessive manner. T. d., inherited according to the first type, was traced for 2-3 generations, and in individual families - for 4-5 generations. With autosomal recessive inheritance, cases of consanguinity of parents were noted.

The pathogenesis has not been established. No primary metabolic defect was identified. It is assumed that dysfunctions of the dopaminergic systems of the brain are important in e. Pathological anatomical examination reveals rough degenerative changes in the cerebral cortex and more pronounced in the basal nuclei, the red nucleus, the Lewis body, the substantia nigra, the dentate nucleus of the cerebellum.

clinical picture. As a rule, the first signs of T. appear at the age of 5-20 years. The course of the disease is usually slowly progressive. T. D., inherited in an autosomal recessive manner, often begins earlier and is more severe than in patients with an autosomal dominant type of inheritance. The first signs of the disease are involuntary movements in one, often lower, limb. At the same time, patients experience a feeling of awkwardness in gait. Hyperkinesis gradually spread, they arise and intensify when trying to change the position of the body, make any movement, while standing, walking, emotional arousal.

Depending on the localization of hyperkinesis, local and generalized forms of T. are distinguished. The local form is most common and is characterized by hyperkinesis of the muscles of the limbs and neck. In the limbs (in each separately), various, sometimes fanciful involuntary movements can occur - choreatic, athetoid, hemiballic, tic-like, myoclonic, tonic spasms and trembling. In the proximal parts of the extremities, hyperkinesis is more pronounced than in the distal ones. In some cases, muscle hyperkinesis right hand may be clinically manifested by the syndrome writing spasm. At the same time, at the beginning of the disease, spasms often occur only when writing. In the future, they gradually spread to other muscles of the hand that are not involved in the act of writing. Hyperkinesis of the neck muscles cause sharp turns of the head back, forward, to the sides. At the onset of the disease, tonic spasms of the neck muscles may resemble spastic torticollis. In the future, other involuntary movements appear that are not characteristic of spastic torticollis. The transition from a local form to a generalized one occurs gradually in different dates from the onset of the disease and is characterized by the development of hyperkinesis of the trunk muscles. Gradually, hyperkinesias become more common and pronounced. Due to the hyperkinesis of the long muscles of the back, the configuration of the spine changes - its curvature appears,

Often there is a short-term freezing of the patient in abnormal postures. The gait becomes pretentious, swaying ("gait of a camel"). Self-care of patients is difficult, but they adapt to motor disorders, they manage to temporarily reduce or eliminate emerging hyperkinesis and perform complex movements, such as running, jumping, dancing. In the position of the patient lying down, at rest and with distraction of attention, hyperkinesis stops or decreases significantly, and does not occur during sleep. Patients lack s, coordinating, sensitive and pelvic disorders. Tendon reflexes are preserved, pathological reflexes are not caused. There are no intellectual-mnestic disorders. With an unfavorable course in the later stages of the disease, deformities of the joints, muscular trunk and extrapyramidal rigidity of the muscles of the trunk, limbs, face, tongue, and pharynx may develop, which is accompanied by disorders of chewing, swallowing and breathing.

Diagnosis established on the basis of clinical data. It is usually not in doubt if there are already cases of T in the family.

Other diseases of the extrapyramidal system that occur with torsion-dystonic syndromes differ from T. d. in that they do not progress, they undergo reverse development (to one degree or another) with a decrease in the frequency and severity of hyperkinesis. In their clinical picture, along with hyperkinesis, there are other symptoms of brain damage that are not observed in torsion dystonia.

Treatment conservative and operational. Assign cyclodol, artan, norakin, dinezin, tropatsin, small doses of L-DOPA in combination with tranquilizers (elenium, seduxen, etc.), vitamins of group B; conduct courses therapeutic gymnastics, hydrotherapy. In the later stages of T., with deformities of the joints and muscle contractures, orthopedic operations are sometimes performed.

TORSION DYSTONIA(lat. torsio, torsionis rotation, twisting; Greek dys- + tonos tension; syn.: torsion spasm, deforming muscular dystonia, progressive torsion spasm, dysbasia lordotica progressiva) is a chronic progressive disease of the brain, which is based on the defeat of the extrapyramidal system. Its characteristic feature is the changing, uneven distribution of a muscle tone on separate parts of a body which is followed by original hyperkinesias (see), often with rotational movements. Bleeding is rare. Men are more often ill.

For the first time a wedge, T.'s picture is described in 1907 by M. W. Schwalbe. For many years he observed the family, in two generations there were 5 patients who suffered, in his opinion, hysterical neurosis, but in reality - torsion dystonia. In 1911, G. Oppenheim established that T. d. is an organic disease of the brain caused by damage to the subcortical nodes, proved that its classification as hysteria is erroneous. The question of nosological affiliation Etc. long time remained controversial. According to some scientists, T. d. is an independent hereditary-caused disease. Other researchers not only did not attach importance to heredity in the etiology of T. d., but also believed that there were only torsion-dystonic syndromes in the pathology of the extrapyramidal system of various etiologies - infectious and toxic encephalitis, craniocerebral trauma, birth trauma, vascular diseases of a brain, etc. Now it is generally recognized that T. d. - an independent nosological form, in an etiology a cut the hereditary factor has the main value. The type of inheritance is different. In some families, the disease is inherited in an autosomal dominant manner, in others, which is more common, in an autosomal recessive manner. T. d., inherited according to the first type, was traced for 2-3 generations, and in individual families for 4-5 generations. With autosomal recessive inheritance, cases of consanguinity of parents were noted. Often there are sporadic cases of T. d.

The pathogenesis has not been established. No primary metabolic defect was identified. Assume that in a pathogeny disturbances of content of catecholamines matter (see), mainly dopamine. The pathophysiological essence of T. is a violation of the subcortical regulation of muscle tone (see). Pathological anatomical examination reveals mild degenerative changes in the cerebral cortex and more pronounced in the basal nuclei, the red nucleus, the Lewis body (nucleus subthalamicus), the black substance (substantia nigra), the dentate nucleus of the cerebellum.

clinical picture. As a rule, the first signs of T. appear at the age of 5-20 years. The course of the disease is usually slowly progressive, sometimes stationary. T. D., inherited in an autosomal recessive manner, often begins earlier and is more severe than in patients with an autosomal dominant type of inheritance. The first signs of the disease are involuntary movements in one, more often lower limb. At the same time, patients experience a feeling of awkwardness in gait. Hyperkinesis gradually spread, they arise and intensify when trying to change the position of the body, make any movement, while standing, walking, emotional arousal.

Depending on the localization of hyperkinesis, local and generalized forms of torsion dystonia are distinguished.

With a local form, hyperkinesis of the muscles of the limbs and neck develops. In the limbs (in each separately), various, sometimes fanciful involuntary movements can occur - choreatic, athetoid, hemiballic, tic-like, myoclonic, tonic spasms and trembling. Characteristic rotational movements are noted along the longitudinal axis of the limb. In the proximal parts of the extremities, hyperkinesis is more pronounced than in the distal ones. In nek-ry cases the hyperkinesia of muscles of the right hand can be shown a wedge, a picture of a syndrome of a writing spasm (see). At the same time, at the beginning of the disease, spasms often occur only when writing. In the future, spasms gradually spread to other muscles of the hand that are not involved in the act of writing (see Spasm). Hyperkinesis of the neck muscles cause sharp turns of the head back, forward, to the sides. At the beginning of the disease, tonic spasms of the cervical muscles may resemble the syndrome of spastic torticollis (see). In the future, other involuntary movements appear that are not characteristic of spastic torticollis. The local form is much more common than the generalized one, its transition to the generalized one occurs gradually at different times from the onset of the disease and is expressed by the appearance of hyperkinesis of the trunk muscles. Gradually, they become more common and pronounced. In connection with the hyperkinesis of the long muscles of the back, the configuration of the spine changes - its curvatures appear, overextension in the lumbar and lower thoracic regions with a sharp lordosis (see) and kyphoscoliosis (see Kyphosis, Scoliosis). From time to time there are corkscrew-like movements of the torso. Strengthening the hyperkinesis of the muscles of the limbs, neck, and sometimes spasms of the facial muscles appear. Speech disorders may occur. In the pauses between hyperkinesis, muscle tone can be increased, decreased and sometimes normal.

Often there is a short-term freezing of the patient in abnormal postures. The gait becomes pretentious, swaying ("gait of a camel"). Self-care of patients is difficult, but they adapt to motor disorders, they manage to temporarily reduce or eliminate the resulting hyperkinesis and perform complex movements, for example, run, jump, dance. In the position of the patient lying down, at rest and with distraction of attention, hyperkinesis stops or decreases significantly, and does not occur during sleep. Patients have no paresis, coordinating, sensory and pelvic disorders. Tendon reflexes are preserved, pathological reflexes are not caused. There are no intellectual-mnestic disorders. In an unfavorable course in the later stages of the disease, joint deformities, muscle contractures of the trunk and extrapyramidal rigidity of the muscles of the trunk, limbs, face, tongue, and pharynx can develop, which is accompanied by disorders of chewing, swallowing and breathing.

The diagnosis is established on the basis of a wedge, data. Usually it is not in doubt if there are cases of the disease in the family. Etc. In sporadic cases, it is necessary to conduct differential diagnosis with torsion-dystonic syndromes, especially those caused by the chronic form of epidemic encephalitis (see Economic lethargic encephalitis) and hepato-cerebral dystrophy (see). Differential diagnostic value in epidemic encephalitis has an acute development of the disease, sleep disturbance, diplopia (see), lack of convergence, convulsions of gaze (see Gaze paralysis, convulsions), autonomic disorders and, in later stages, symptoms of parkinsonism. In contrast to T., with hepato-cerebral dystrophy, a Kaiser-Fleischer ring is found (deposition of a greenish-brown pigment containing copper on the periphery of the cornea of ​​​​the eyes), a violation of the exchange of copper with low content ceruloplasmin in the blood, cirrhosis of the liver.

Other diseases of the extrapyramidal system that occur with torsion-dystonic syndromes differ from T. d. that do not progress, undergo reverse development (to one degree or another) with a decrease in the frequency and severity of hyperkinesis. In their wedge, a picture along with giperknezami there are also other symptoms of damage of a brain which are not observed at T. d.

Treatment is conservative and surgical. Assign cyclodol, artan, norakin, dinezin, tropatsin, small doses of L-DOPA in combination with tranquilizers (elenium, seduxen, etc.), vitamins of group B; conduct courses of therapeutic exercises (see Therapeutic exercise), hydrotherapy (see). In the later stages of T., with deformities of the joints and muscle contractures, orthopedic operations are sometimes performed. With torsion-dystonic syndromes, treatment is directed to the underlying disease, according to indications, symptomatic agents are used.

Surgical treatment (stereotactic operations) is indicated in cases where the disease progresses and deprives the patient of the ability to work and the possibility of self-care; contraindicated in case of cachexia, severe diseases internal organs, blood diseases. Long duration and severity of T. d. in the later stages are not contraindications.

Stereotactic operations on the basal nuclei of the brain (see Stereotactic neurosurgery) consist in the destruction of one or two subcortical structures, which leads to rupture patol. Appreciate, on a cut the impulses causing hyperkinesias and disturbances of a muscular tone circulate. Initially, for this purpose, the medial segment of the globus pallidum was destroyed (see Pallidotomy), which had a positive effect in about half of the patients. In the 60s. operative treatment Etc. began to be carried out by thalamotomy (see) - destruction of the ventrolateral nucleus of the thalamus, to which the paths connecting the main links of the extrapyramidal system converge. In a crust, time for the purpose of increase in efficiency of treatment make the combined destruction of a ventrolateral kernel of a thalamus and subthalamic area (see. Campotomy ) allowing to receive significant and stable improvement more than at 80% of patients. With a local form of T., the destruction of the basal nuclei of the brain is carried out on the side opposite to that side of the body, on which there are violations of muscle tone and hyperkinesis. With a generalized form of T., as a rule, two operations are performed with an interval between them of about 6-8 months. The first operation is usually performed on the side opposite the more affected limbs. If the lesion is expressed equally on both sides, then the first operation is performed on the left to restore, first of all, the functions of the right hand.

In the presence of pronounced hyperkinesis, operations are performed under anesthesia (see), in milder cases (rarely), local potentiated anesthesia is used (see Local anesthesia).

The prognosis is unfavorable. In the late stage, patients often die from intercurrent diseases. After stereotaxic operations, hyperxtheses and muscle rigidity in most cases decrease or disappear.

As a result, patients get the opportunity to walk and serve themselves, to perform many necessary actions. According to E. I. Kandol, in 66% of patients for many years after surgery, the result remained good or was regarded as a significant improvement.

Prevention. The patient's family with T. should be under the supervision of a medical genetic consultation (see). Parents of a child sick with Etc. are advised to refrain from further childbearing.

See also Hereditary diseases, Extrapyramidal system.

Bibliography: Barkhatova V. P. and Markova E. D. Issues of pathogenesis and treatment of torsion dystonia, Shurn. neuropath, and psychiat., t. 78, no. 8, p. 1121, 1978; Davidenkov S. N. hereditary diseases nervous system, M., 1932; aka Clinical Lectures on nervous diseases, in. 3, p. 154, L., 1957; Kandel E. I. Functional and stereotaxic neurosurgery, M., 1981; Kandel E. I. and Voytyna S. V. Deforming muscular torsion dystonia, M., 1971, bibliogr.; Cooper I. S. and Polukhin N. M., Chemopallidectomy in parkinsonism and juvenile extrapyramidal hyperkinesis, Vopr. neurosurgery., No. 3, p. 3, 1958, bibliogr.; Multi-volume guide to neurology, ed. S. N. Davidenkova, vol. 7, p. 296, L., 1960; Shamova T.V. Family torsion dystonia, in the book: Sketches wedge, neurol., ed. G. N. Davidenkova, v. 1, p. 61, L., 1962; van V o g a e g t L. Etudes anatomo-cliniques sur des dystonies de torsion d'origine hepato-lenticulaire et d'ori-gine abiotrophique dans une meme famille, Mschr. Psychiatry. Neurol., t. 114, p. 331, 1948; Cooper I. S. Involuntary movement disorders, N., Y., 1969; H e r z E. Dystonia, historical review, analysis of dvstonic symptoms and physiologic mechanisms involved, Arch. Neurol. Psychiatry. (Chic.), v. 51, p. 305, 319, 1944; H e rz E. a. Hoefer P. F. A. Spasmodic torticollis, ibid., v. 61, p. 129, 1949; R i m-b a u d L. Precis de neurologie, P., 1957; Schwalbe M. W. Eine eigentiimliche tonische Krampfform mit hysterischen Symptornen, B., 1908.

R. A. Tkachev; E. I. Kandel (hir.).

Violation of muscle tone of a neurological nature is called torsion dystonia. This disease can develop with disorders and lesions of the nuclei of the brain.

Under the influence of certain factors, the brain ceases to function normally, due to which involuntary and unconscious contractions of muscle groups can occur, while the person is forced to unconsciously assume a certain position.

Torsion dystonia quite rare disease, there are 3 people per 100 people. Most often, this disease begins in young age up to 20 years old. With the process of growing up, the disease can progress, passing from one stage to another.

Varieties of violation

Torsion dystonia is characterized by uneven muscle tone of body parts, often with rotational movements. The disease most often manifests itself in the form of spasms of individual muscle groups - a focal form.

With this form, involuntary closing of the eyelids occurs due to the tension of the circular muscle of the eye. There is also a contraction of muscles, cheeks, mouth and tongue, swallowing is difficult, in some cases with spastic dystonia, the patient cannot speak.

Torsion dystonia, depending on the manifestations, is divided into 2 types:

Also, the disease, depending on the degree of damage, is divided into the following types:

1. Local. Not all muscle groups are affected, but individual ones (, buccal or facial dystonia,). When the neck muscles are affected, spastic torticollis occurs.
2. Segmental. There are spasms of several adjacent muscle groups.
3. Generalized. With such a violation, the muscles of the pelvis, back, trunk and limbs are affected.

Causes of the disease

So far, no clear answers have been received as to why this disease occurs. Only types and types of torsion dystonia have been studied.

The autosmno-dominant type often manifests itself in more adulthood, while the course of the disease is mild degree. The main provoking factors for the occurrence of torsion dystonia include:

• heredity;
• diseases of the nervous central system inflammatory etiology;
• giardiasis, toxoplasmosis;
• disruption of the cerebral vessels;
• cerebral dystrophy;
• intoxication;
• tumor;
• postpartum trauma;

In violation of the metabolism of Dopamine, dystonia can also develop. When diagnosing patients, very often dopamine levels are elevated.

Clinic and symptoms of the disease

Usually, the disease manifests itself at a young age, progression is slow. The autosomal recessive form of dystonia begins to manifest itself earlier and more strongly than in the autosomal dominant form.

The very first signs are expressed in arbitrary movements of the upper or lower extremities - this makes the gait awkward. Involuntary movements are exacerbated when trying to change positions, express emotion, walking, or any other movement.

The main symptoms of torsion dystonia include:

• involuntary movements of the arms and legs;
• with involuntary movements appear jerky movements neck;
• with further development gait becomes swaying;
• involuntary spasms and increased tone muscles of the neck, arms and legs, head, pelvis;
• extension of the body,
• trembling;
• - contraction of the muscles of the hands during writing;
• tonic spasms;
• circular movements of the body around the axis;
• fixed involuntary postures of the body;
• hyperkinesis.

According to the nature of the distribution of hyperkinesis, a generalized and a local form are distinguished. The most common form is local. It manifests itself in the form of involuntary contractions of the muscles of the neck, upper and lower extremities, while in each of them contractions can occur separately, which makes the patient's movements pretentious.

It is not uncommon for a local form to become generalized. Hyperkinesis of the trunk develops, which only worsens over time, manifesting itself more pronouncedly.

Such a process leads to a curvature of the spine: the patient may unnaturally overextend in the lumbar and thoracic region. Spasms of the neck, limbs and face may also be noted, speech is disturbed. Increased hyperkinesis can be replaced by a moderate or even normal state.

In some cases, during movement, the patient may freeze, even in the most comfortable posture. Sometimes there is a condition in which the patient cannot serve himself. But over time, the patient gets used to it, he adapts to such muscle disorders: they begin to control involuntary movements and even perform more complex ones: running, dancing, and more.

During sleep, in the supine position, or simply when the patient's attention is distracted, hyperkinesis is significantly reduced or stops.

In patients with torsion dystonia, sensitivity and reflex ability are preserved, there are no pelvic, coordinating and intellectual disorders.

In the later stages of the disease, articular deformity, rigidity of the tongue, trunk and muscles of the face, and pharynx may develop, which leads to swallowing, chewing and respiratory disorders.

Establishing diagnosis

When seeking help from a doctor, the first thing he pays attention to is the rigidity of muscle groups, in which reflexivity can be observed, a decrease in sensitivity and muscle strength, and a decrease in intelligence.

The diagnosis is based on clinical picture and if there were people with the same disease in the family, there is no doubt. The main methods for diagnosing torsion dystonia include:

Timely diagnosis will allow faster delivery correct diagnosis and initiate appropriate treatment.

Therapy Methods

Treatment of torsion dystonia includes conservative and surgical direction. In addition, a course of therapeutic exercises and hydrotherapy are prescribed.

Conservative treatment includes drugs of various actions:

• neuroleptic drugs;
• tranquilizers;
• vitamin therapy;
• blockers;
• anticonvulsant drugs;
• anticholinergics, etc.

If medical treatment does not help, surgical treatment is prescribed. The exception is if the patient has severe diseases of the internal organs, as well as blood diseases. In the later stages, these diseases do not apply to contraindications.

In the later stages of the development of torsion dystonia, the prognosis is not encouraging, since such patients often die from intercurrent diseases. After surgical treatment muscular dystrophy and hyperkinesias decrease or disappear altogether.

With timely and adequate treatment patients partially recover: they can walk, perform the necessary actions and serve themselves. In 70% of cases after the operation, patients show improvement.

When secondary torsion dystonia occurs, surgical treatment gives positive result, while there is a regression of hyperkinesis and spasms.

After medical or surgical treatment, the patient must always comply with medical support. Relatives of such a patient should be monitored. Parents who have a child with dystonia are advised to refuse further childbearing.

Torsion dystonia - neurological disease with a high degree progression, the presence of uncontrolled tonic contractions of various muscle groups is characteristic, which leads to the development of pathological postures. This disease can provoke curvature of the spine and contractures of the joints. It manifests itself equally in adults and children, regardless of gender.

pathology is diagnosed after medical examination and exclusion of other diseases. used for differentiation instrumental research: REG, USDG of vessels head, EEG, EchoEG, CT and MRI of the head.

Therapeutic measures will depend on the cause of the disease and the severity of the patient's condition. Conservative treatment is more often used, in the case of disability, surgical intervention is applicable.

Modern neurology uses methods to stabilize the patient's condition and return the ability to self-service. The therapeutic prognosis depends on the type of muscle abnormality.

Etiology

Torsion dystonia (TD) - chronic pathology nervous system, which causes involuntary tonic twisting of the muscles. In 65%, the disease manifests itself before adolescence, average for a certain population, somewhere around 40 patients per 100,000 population.

Causes and pathogenesis of pathology on this moment little studied. The main factors that can trigger muscle twisting are:

• hereditary predisposition;
• deviations in the work of the central nervous system due to inflammation;
• problems with the functioning of the vessels of the brain;
• hemorrhage;
• cerebral;
• malignant or benign neoplasms brain;
• postpartum trauma to the skull.

All patients had metabolic disorders with high level dopamine (belong to neurotransmitters and perform important role in brain activity). Dopamine performs not only the function of an intermediary in the transmission of neurons to the central nervous system, but also the function of a hormone, protects the gastrointestinal tract from damage by digestive enzymes.

Symptomatic manifestations of TD are observed in such diseases:

• (ICP) - a group of chronic symptom complexes of motor disorders secondary to damage or anomalies of the brain;
• - genetic disease nervous system, more common in 30–50 years;
• - hereditary pathology, associated with a gene mutation, causes accumulation of copper in various bodies and fabrics;
• - degenerative disorder of the motor system, slowly progressing and causing the death of neurons, manifests itself after 50 years;
• epidemic - inflammation of the substance of the brain.

Muscle twisting can also be observed as a reaction to long-term use of antipsychotics. It is important to follow medical recommendations and not exceed the dosage of the drug.

Classification

Torsion dystonia is a common disease, reflected in the World Classification of Diseases, according to ICD-10 it has the code G20-G26.

AT modern medicine It is customary to distinguish the gradation of the disease according to various principles.

According to age characteristics:

• infant group - up to 2 years;
• children's group - 3–12 years;
• teenage - 13–20 years;
• dystonia early age- 21–40 years;
• dystonia of older age - after 40 years.

According to the anatomical distribution, the following types of dystonia are distinguished:

• focal - a certain part of the body is captured (head, neck, muscles of the face, torso, upper and lower limbs, vocal cords);
• segmental form - characterized by the involvement of two or more adjacent parts of the body (head and neck, neck and arm);
• multifocal - more than two non-adjacent parts of the body are involved (face and leg, arm and leg);
• generalized - manifested by the involvement of both legs or the trunk, one lower limb and the trunk;
• hemidistonia - the muscles of the half of the body, face and neck are involved in the process, which often indicates secondary.

According to the pathoanatomical principle:

• with degeneration, when there is a disappearance of certain functional features muscular system and muscle groups
• without degeneration - damage is static.

According to etiological criteria:

1. Primary. Diagnosed when muscle twisting is the only symptom. They occur for a genetic reason. There are two forms: local and generalized (uncontrolled tonic contractions of the muscles of the whole body).
2. Dystonia plus. This group includes cases with severe dystonic syndrome, which is supplemented accompanying signs(paroxysm or myoclonus), but without degeneration.
3. Neurodegenerative. Hereditary diseases (Wilson's disease and others) with a progressive process of degeneration.
4. Secondary. Characterized by a sudden onset of established cause, there is no degeneracy of the functions.

Genetic classification includes a large number of gene mutations and has a hereditary nature, is transmitted in an autosomal recessive or autosomal dominant manner. This form has a second name - idiopathic torsion dystonia, characterized by slow progression.

At the stage of diagnosis, the doctor differentiates the disease, ascertains its variety and severity.

Symptoms

Symptoms of torsion dystonia are observed in most cases with a load on those muscles that are subject to contraction.

Main features:

• involuntary twisting of a muscle group;
• rotational movements of the trunk or limbs;
• corkscrew-like movement of the body;
• hyperkinesis of the limbs during an attempt to commit purposeful action;
• there is a sleep disorder;
• during complete rest (night sleep) there are no symptoms.

Additional signs will appear if the form of the disease is not primary. The disease may not be immediately detected, but after a year or even five years, when the symptoms are well visualized.

Diagnostics

Diagnosis of torsion dystonia takes place in several stages:

• medical examination, listening to patient complaints and studying the medical history;
• performing differentiation from secondary symptomatic manifestations;
• instrumental examinations.

Hardware diagnostics include:

• Ultrasound of cerebral vessels;
• EchoEG;
• Head MRI.

Based on the results of the examination, the specialist makes the final diagnosis and prescribes individual therapy.

Treatment

Treatment of torsion dystonia is conservative. The patient is prescribed the following medications:

• anticholinergic drugs a wide range actions that are applicable in all forms of pathology;
• muscle relaxants - help to reduce tone skeletal muscles and reduce motor activity;
• benzodiazepines - drugs of this group have hypnotic, sedative, anxiolytic and anticonvulsant effects;
• botulinum toxin injections - used for local varieties of the disease;
• intrathecal administration of Baclofen - applicable for severe generalized dystonia of a secondary nature;
• chronic brain stimulation - used in primary forms with generalization.

AT without fail therapeutic exercises, hydrotherapy are introduced. Therapy in secondary forms is aimed at eliminating the cause of the disease.

Muscular dystonia can lead to disability - in this case, it is prescribed surgery. The neurosurgeon performs stereotaxic combined destruction of the basal subcortical structures. In 80% of patients after surgical procedures, a significant improvement is noticeable, of which in 66% the improvement has a long temporal duration.

Possible Complications

Torsion dystonia can lead to muscle hypertrophy: they lose their flexibility and ability to stretch, which leads to their shortening. With prolonged twisting of muscle structures under the influence of spasm, dystrophic processes occur in the joints.

Main consequences:

• rachiocampsis;
• lumbar;
• respiratory disorders;
• disability.

It is important to conduct a qualitative examination at the first uncharacteristic twitching or twisting of the muscles in a child. The sooner treatment begins, the greater the chance of preventing disability.

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Answer only if you have proven medical knowledge

Torsion dystonia belongs to hereditary diseases nervous system and is characterized by peculiar rotational hyperkinesis, changes in muscle tone and the formation of pathological postures. For the first time, torsion dystonia was described by W. Schwalbe in 1908. There are 2 clinical forms diseases: dystonic-hyperkinetic, dophan-independent and rigid, dophas-dependent. The gene for the dopha-independent form is localized on the 9th chromosome, and the gene for the dopha-dependent form is located on the 14th chromosome.

Etiology, pathogenesis. So far, it has not been fully elucidated. The main role belongs to the imbalance of neurotransmitters, especially dopamine, acetylcholine, nordadrenaline, serotonin, GABA within the nigrostriatal and striopalidar systems. In rigid (dophase-dependent) forms of torsion dystonia, a pronounced decrease in dopaminergic and an increase in cholinergic activity were revealed, and in the hyperkinetic form, opposite phenomena were established.

Clinic. The manifestation of the first symptoms of the disease is observed in childhood and adolescence(from 5 to 20 years).

Rigid form. Muscle tone rises unevenly, as a result of which the body either twists along the axis or bends to the side, forward, backward, the head also turns in different sides. Fixed pathological postures are observed.

Diaponically-hyperkinetic form. It begins most often with focal hyperkinesis in the extremities. Depending on the localization of dystonic manifestations, focal and generalized forms of torsion dystonia are distinguished. With damage to the muscles of the face and neck, focal forms appear as blepharospasm, trismus, oromandibular dystonia, facial hemispasm, spastic torticollis, spastic dystonia. The most common is spastic torticollis. It manifests itself in the form of a prolonged tonic asymmetrical contraction of the neck muscles with a significant tilt of the head, most often to the side, sometimes back. The patient cannot return his head to its original normal position. Significant hypertrophy can occur due to continuous contraction deep muscles. If limbs are involved in the process, then writing spasm or dystonia of the foot develops. The disease can go into a generalized form and then has a severe progressive course. Pyramidal signs for the disease are uncharacteristic.

Diagnostics, differential diagnostics.The main criteria for the diagnosis of torsion dystonia are: the onset of the disease in childhood and adolescence, a hereditary history, the appearance of changes in tone and characteristic hyperkinesis, most often in the leg, sometimes in the arm, with a slow generalization of symptoms, the absence pathological changes according to CT and MRI data; DNA diagnostics, a positive pharmacological test with levodopa in a rigid, dophasic form of torsion dystonia.

Torsion dystonia must be differentiated from hepatocerebral dystrophy, which is characterized by mental changes, specific disorders of copper metabolism (decreased ceruloplasmin concentration, hypocupremia, hypercupuria), the presence of the Kaiser-Fleischer ring. On CT scan of the brain with hepatocerebral dystrophy, a focus of reduced density is observed in the area of ​​the lenticular nuclei, the globus pallidus, and the thalamus.

Rigid forms of torsion dystonia should be differentiated from the rigid form of Huntington's chorea, which is characterized by early onset of dementia; CT or MRI of the brain reveals atrophy. In contrast to torsion dystonia, the juvenile form of Parkinson's disease is characterized by muscle rigidity, predominantly expressed in the legs, fast development bradykinesia, trembling.

Torsion dystonia must be differentiated from a special group of iatrogenic dystonic syndromes caused by the use of neuroleptics, levodopa in high doses. This group of dystonic manifestations occurs at the beginning of treatment in the form of facial hemispasm, spastic torticollis. For differential diagnosis, the patient's history of the use of neuroleptics, levodopa, as well as the disappearance of dystonic manifestations after discontinuation of the drug, is important.

Treatment in dystonia, it should be aimed primarily at normalizing the imbalance of neurotransmitters. In rigid forms, drugs are used that contain L-dopa (Nakom, Sinemet, Madopar). There is a positive effect of continuous treatment with small doses of L-dopa in patients with rigid forms of torsion dystonia for 20-25 years. In some cases, it is advisable to combine L-dopa with dopamine agonists (bromocriptine, parlodel) or with a selective MAO inhibitor type B-umex, which helps prevent the occurrence of dyskinesias.

In the dystonic-hyperkinetic form of torsion dystonia, antidopaminergic drugs are indicated: drugs of phenothiazine origin (haloperidol), diazepine (clonazepam), and sometimes anticonvulsants (carbamazepine). In some cases, a positive effect is observed with the use of muscle relaxants (baclofen, sirdalud). With the focal form of torsion dystonia, the most effective is the appointment of botulinum toxin (dysport). His intramuscular injections in the corresponding zones give a positive effect within 3-4 months, in the future, their re-introduction is required. With insufficiently effective drug treatment neurosurgical intervention is indicated: stereotaxic operations in the area of ​​the ventrolateral nucleus of the thalamus, sometimes in combination with destruction of the subthalamic area.