Torsion muscular dystonia. Symptoms of torsion dystonia. Forecast of torsion dystonia

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 based on damage to the extrapyramidal system. Characteristic feature Etc. is a changing, uneven distribution of muscle tone in individual parts of the body, accompanied by a kind of hyperkinesis, often with rotational movements. The disease is rare. Men get sick more often.

In the etiology of etc., the main significance is 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. Etc., inherited according to the first type, was traced over 2-3 generations, and in some families - over 4-5 generations. With autosomal recessive inheritance, cases of consanguinity between parents have been reported.

Pathogenesis has not been established. No primary metabolic defect was identified. It is believed that dysfunction of the dopaminergic systems of the brain is important. A pathological examination reveals mild degenerative changes in the cerebral cortex and more pronounced in the basal ganglia, red nucleus, Lewis body, substantia nigra, and dentate nucleus of the cerebellum.

Clinical picture. As a rule, the first signs of T.D. appear at the age of 5-20 years. The course of the disease is usually slowly progressive. Etc., 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, usually lower, limb. In this case, patients experience a feeling of awkwardness in their gait. Hyperkinesis gradually spreads, they arise and intensify when trying to change the position of the body, make any movement, when standing, walking, or emotional arousal.

Depending on the localization of hyperkinesis, local and generalized forms are distinguished, etc. The local form is most common and is characterized by hyperkinesis of the muscles of the limbs and neck. In the limbs (in each individual) various, sometimes fanciful, involuntary movements may occur - choreatic, athetoid, hemiballus, tic-like, myoclonic, tonic spasms and tremors. IN proximal parts hyperkinesis is more pronounced in the extremities than in the distal extremities. In some cases, muscle hyperkinesia right hand may manifest itself as a clinical picture of the syndrome writer's cramp. At the same time, at the beginning of the disease, spasms often occur only when writing. Subsequently, they gradually spread to other muscles of the hand that are not involved in the act of writing. Hyperkinesis of the neck muscles causes sharp turns of the head back, forward, and to the sides. At the onset of the disease, tonic spasms of the neck muscles may resemble spastic syndrome torticollis. Subsequently, other involuntary movements appear that are not characteristic of spastic torticollis. The transition of the local form to the generalized one occurs gradually in different terms from the onset of the disease and is characterized by the development of hyperkinesis of the trunk muscles. Gradually, hyperkinesis becomes more common and pronounced. Due to hyperkinesis long muscles back, the configuration of the spine changes - its curvature appears,

The patient often freezes for a short time in abnormal positions. The gait becomes pretentious, swaying (“camel gait”). Self-care for patients is difficult, but they adapt to motor disorders, they manage to temporarily reduce or eliminate the resulting hyperkinesis and perform complex movements, such as running, jumping, dancing. In the patient's lying position, at rest and when attention is distracted, hyperkinesis stops or significantly decreases, and does not occur during sleep. The patients do not have coordination, sensory or pelvic disorders. Tendon reflexes are preserved, pathological reflexes are not evoked. No intellectual-mnestic disorders are observed. If the course is unfavorable in the later stages of the disease, joint deformities, muscle torso and extrapyramidal rigidity of the muscles of the trunk, limbs, face, tongue, pharynx may develop, which is accompanied by disorders of chewing, swallowing and breathing.

Diagnosis established on the basis of clinical data. Usually it is 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. in that they do not progress and undergo reverse development (to varying degrees) 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 with torsion dystonia.

Treatment conservative and surgical. Prescribe cyclodol, artan, norakin, dynesin, tropacin, small doses of L-DOPA in combination with tranquilizers (elenium, seduxen, etc.), B vitamins; conduct courses therapeutic exercises, hydrotherapy. In the later stages of T., with joint deformities and muscle contractures, orthopedic operations are sometimes performed.

Progressive neurological disease, the main syndrome of which is uncontrolled tonic contractions of various muscle groups leading to the development of pathological postures. Accompanied various options hyperkinesis, can lead to curvature of the spine and joint contractures. Diagnosis is based on the exclusion of other pathologies and secondary torsion dystonia. Treatment is carried out with antiparkinsonian drugs, anticonvulsants, antispasmodics, B vitamins. Possibly surgery- stereotactic destruction subcortical structures.

Torsion dystonia (from Latin “torsio” - twisting) - chronic pathology nervous system, leading to tonic muscle disorders with the formation of aphysiological postures and the occurrence of hyperkinesis. First detailed description the disease dates back to 1907, but at that time it was classified as hysterical neurosis. The organic nature of torsion dystonia was proven by G. Oppenheim in 1911, but even after that a long period its nosological affiliation has been the subject of debate, and its pathogenesis still remains unstudied.

Torsion dystonia can be observed in various age periods, but more often debuts before the age of 20; 65% of cases occur in the first 15 years of life. The occurrence in various populations ranges from 1 case per 160 thousand people. up to 1 case per 15 thousand people, on average - 40 cases per 100 thousand population. Steady progression leading to disability young, lack of effective pathogenetic therapy makes torsion dystonia actual problem modern neurology.

Causes of torsion dystonia

Etiology and pathogenetic mechanism, which results in torsion dystonia, have not been studied to date. Idiopathic and symptomatic cases of this pathology are known. With the development of molecular genetic research, it became clear that idiopathic torsion dystonia is hereditary. Data received about various types its inheritance: autosomal recessive and autosomal dominant. Moreover, in the second case, the disease manifests itself at a later age and has more mild course. At the same time, sporadic variants are described in the literature. Symptomatic torsion dystonia is observed with intracerebral tumors, Huntington's chorea, epidemic encephalitis, Wilson's disease, traumatic brain injury, childhood cerebral palsy.

Presumably, torsion dystonia is associated with a violation of dopamine metabolism. When examining patients, it is often revealed increased level blood dopamine hydroxylase. The dominant pathogenetic theory is the idea that tonic disorders in this disease are caused by a disorder of subcortical regulation. This is supported by pronounced morphological degenerative changes in the subcortical nuclei (subthalamic, basal, red, substantia nigra), often detected in patients.

Classification of torsion dystonia

The focal form is characterized by tonic spasms of individual muscles. Focal forms include: idiopathic blepharospasm - closure of the eyelids caused by tonic spasm of the orbicularis oculi muscle; oromandibular dystonia - contraction of the muscles of the masticatory group, tongue, cheeks and mouth; spastic dysphagia - difficulty or inability to swallow; spasmodic dysphonia - a disorder of voice formation due to tonic contraction of the vocal muscles; writer's cramp - involuntary contraction of the hand muscles, causing writing impairment; neck muscle spasm; foot spasm.

Multifocal form- represents various combinations of focal forms.

Segmental form- involuntary contraction of several adjacent muscle groups.

Hemidystonia- involuntary tonic contraction covers the muscles of half the body.

Generalized form- uncontrolled tonic contractions, covering almost all muscles of the body.

Symptoms of torsion dystonia

As a rule, torsion dystonia debuts with periodically occurring tonic focal spasms, observed mainly when the muscle group affected by dystonia is loaded. For example, at the beginning of its development, writer's cramp appears only during writing. Involuntary spastic contractions correspond to uncontrolled motor acts (hyperkinesis). The latter can be athetoid, choreatic, myoclonic, tonic, hemiballic, tic-like or tremor-like in nature. In the distal parts of the limbs they are less pronounced than in the proximal ones. Rotational movements of the torso or limbs along their longitudinal axis are typical.

Pathognomonic is a change in the intensity of spastic postures and involuntary motor acts in accordance with functional activity and body position, as well as emotional state patient. Corkscrew-like movements of the torso are observed mainly during walking, hyperkinesis of the limbs - when trying to perform a purposeful action. During sleep, all tonic signals disappear pathological manifestations and hyperkinesis. The ability of patients to adapt to emerging situations is noted movement disorders, temporarily reduce the severity of hyperkinesis, maintain self-care and perform complex motor acts (for example, dancing).

Frequent muscle contractions can cause the development of their hypertrophy, prolonged spasm - connective tissue replacement muscle tissue with the formation of shortening of the muscle and a persistent decrease in its ability to stretch. Long-term forced situation limbs with muscle spasm leads to degenerative processes in articular tissues and the formation of joint contractures. Tonic spasms of the back muscles cause curvature of the spine: lumbar lordosis, scoliosis or kyphoscoliosis. In later stages, spasms of the trunk muscles can cause respiratory problems.

In some cases, torsion dystonia begins with local forms, which gradually transform into a generalized version. The latter is characterized by an elaborate gait with swaying, periodic adoption of an abnormal pose and freezing in it. In some patients, the disease has a stable course with preservation of isolated local manifestations and without generalization of the dystonic process. A similar course is observed mainly in cases of late onset (in the period from 20 to 40 years).

Diagnosis of torsion dystonia

In the neurological status, attention is drawn to the rigidity of individual muscle groups while intact tendon reflexes, no decrease in muscle strength and sensory disorders; intellectual-mnestic safety of patients.

The main diagnostic task for a neurologist is to differentiate idiopathic torsion dystonia from secondary torsion-dystonic syndromes. The latter are usually accompanied by symptoms of nervous system damage accompanying dystonia, autonomic disorders, sleep disorders, etc. In terms of differential diagnosis REG is performed or Doppler ultrasound of blood vessels head, EEG, Echo-EG, CT or MRI of the brain.

Torsion dystonia differs from hepatocerebral dystrophy in the absence of pigment deposits in the cornea (Kayser-Fleischer ring), liver damage, and a decrease in blood ceruloplasmin. From epidemic encephalitis - absence acute period and such manifestations of encephalitis as convergence disorder and diplopia, sleep disorder, autonomic dysfunction etc.

Treatment of torsion dystonia

IN conservative therapy drugs are used to treat parkinsonism: combined decarboxylase inhibitor levodopa + carbidopa, anticholinergics trihexyphenidyl and dietazine, triperiden, selegiline, bromocriptine; antispasmodics central action(diphenyltropin); a-DOPA in small doses; tranquilizers (diazepam); vitamins B1 and B6. When hyperkinesis is severe, baclofen, carbamazepine, and tiapride are used. Shown physiotherapy, hydrotherapy. Treatment of secondary dystonia is based on treatment of the causative disease.

Surgical treatment is performed by a neurosurgeon and is indicated for progression of dystonia and disability. Stereotactic combined destruction of basal subcortical structures is carried out - the subthalamic zone and the ventrolateral thalamic nucleus. In local variants of dystonia, destruction is carried out contralateral to muscle disorders. In the generalized version, as a rule, surgical treatment is carried out in 2 stages: first, opposite to the most severe symptoms, and after 6-8 months. - on the second side. If rigidity is expressed symmetrically, then surgery is performed first dominant hemisphere. In 80% of cases, after surgery, there is a significant improvement in the patients’ condition, which in 66% of cases persists for many years.

Forecast of torsion dystonia

Idiopathic torsion dystonia has a slowly progressive course. The outcome is determined by the time of its manifestation. An earlier debut leads to a more severe course and early generalization of dystonia with the development of deep disability. The death of patients is caused by intercurrent infections.

Surgical treatment significantly improves the prognosis. In most cases, after surgery, regression or complete disappearance of hyperkinesis and rigidity is observed; for a long period, patients retain the ability to self-care, are able to walk and perform other complex motor acts. Secondary torsion dystonia if possible effective treatment has diseases favorable prognosis. In such cases, regression of spasms and hyperkinesis of varying severity is observed.

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TORSION DYSTONIA(Latin torsio, torsionis rotation, twisting; Greek dys- + tonos tension; synonym: torsion spasm, deforming muscular dystonia, progressive torsion spasm, dysbasia lordotica progressiva) is a chronic progressive disease of the brain, which is based on damage to the extrapyramidal system. Its characteristic feature is the changing, uneven distribution of muscle tone across separate parts body, accompanied by peculiar hyperkinesis (see), often with rotational movements. Vomiting is rare. Men get sick more often.

For the first time, a wedge, a picture of etc., was described in 1907 by M. W. Schwalbe. He observed a family for many years; in two generations there were 5 patients who, in his opinion, suffered from hysterical neurosis, but in reality - torsion dystonia. In 1911, G. Oppenheim established that T. d. is organic disease brain, caused by damage to the subcortical nodes, proved that attributing it to hysteria is erroneous. Question about nosological affiliation, etc. for a long time remained controversial. According to some scientists, T. d. is an independent hereditary disease. Other researchers not only did not attach importance to heredity in the etiology of etc., but also believed that there are only torsion-dystonic syndromes in pathologies of the extrapyramidal system of various etiologies - infectious and toxic encephalitis, traumatic brain injury, birth trauma, vascular diseases brain, etc. It is now generally accepted that T. d. is an independent nosological form, in the etiology the hereditary factor is of primary importance. 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. Etc., inherited according to the first type, was traced for 2-3 generations, and in some families for 4-5 generations. With autosomal recessive inheritance, cases of consanguinity between parents have been reported. Sporadic cases of Etc. are often encountered.

Pathogenesis has not been established. No primary metabolic defect was identified. It is assumed that disturbances in the content of catecholamines (see), mainly dopamine, are important in the pathogenesis. The pathophysiological essence of T. is a violation of the subcortical regulation of muscle tone (see). A postmortem examination reveals mild degenerative changes in the cerebral cortex and more pronounced ones in the basal ganglia, red nucleus, Lewis body (nucleus subthalamicus), substantia nigra, and dentate nucleus of the cerebellum.

Clinical picture. As a rule, the first signs of T. d. appear at the age of 5-20 years. The course of the disease is usually slowly progressive, sometimes stationary. Etc., 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. In this case, patients experience a feeling of awkwardness in their gait. Hyperkinesis gradually spreads, they arise and intensify when trying to change the position of the body, make any movement, when standing, walking, or emotional arousal.

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

In the local form, hyperkinesis of the muscles of the limbs and neck develops. Various, sometimes fanciful involuntary movements may occur in the limbs (in each individual) - choreatic, athetoid, hemiballus, tic-like, myoclonic, tonic spasms and tremors. 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 parts. In some cases, hyperkinesis of the muscles of the right hand can manifest itself as a wedge, a picture of writer's cramp syndrome (see). At the same time, at the beginning of the disease, spasms often occur only when writing. Subsequently, 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 causes sharp turns of the head back, forward, and to the sides. At the onset of the disease, tonic spasms neck muscles may resemble spasmodic torticollis syndrome (see). Subsequently, 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 form 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. Due to hyperkinesis of the long back muscles, the configuration of the spine changes - its curvature appears, hyperextension in the lumbar and lower thoracic regions with sharp lordosis (see) and kyphoscoliosis (see Kyphosis, Scoliosis). At times, corkscrew-like movements of the body occur. I intensify hyperkinesis of the muscles of the limbs, neck, and sometimes spasms of the facial muscles appear. Speech disturbances may occur. During pauses between hyperkinesis, muscle tone can be increased, decreased, and sometimes normal.

The patient often freezes for a short time in abnormal positions. The gait becomes pretentious, swaying (“camel gait”). Self-care for patients is difficult, but they adapt to movement disorders, they manage to temporarily reduce or eliminate the resulting hyperkinesis and perform complex movements, for example, running, jumping, dancing. In the patient's lying position, at rest and when attention is distracted, hyperkinesis stops or significantly decreases, and does not occur during sleep. The patients do not have paresis, coordination, sensory or pelvic disorders. Tendon reflexes are preserved, pathological reflexes are not evoked. No intellectual-mnestic disorders are observed. In an unfavorable course in the later stages of the disease, joint deformities, muscle contractures of the trunk and extra-pyramidal rigidity of the muscles of the trunk, limbs, face, tongue, and pharynx may develop, which is accompanied by disorders of chewing, swallowing and breathing.

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

Other diseases of the extrapyramidal system, occurring with torsion-dystonic syndromes, differ from Etc. in that. 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 picture, along with hyperknosis, there are other symptoms of brain damage that are not observed with Etc.

Treatment is conservative and surgical. Prescribe cyclodol, artan, norakin, dynesin, tropacin, small doses of L-DOPA in combination with tranquilizers (elenium, seduxen, etc.), B vitamins; conduct courses of therapeutic exercises (see Physiotherapy), hydrotherapy (see). In the later stages of T., with joint deformities and muscle contractures, orthopedic operations are sometimes performed. For torsion-dystonic syndromes, treatment is aimed at the underlying disease; symptomatic drugs are used according to indications.

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

Stereotactic operations on the basal ganglia of the brain (see Stereotactic neurosurgery) involve the destruction of one or two subcortical structures, which leads to rupture of the patol. appreciate how impulses circulate, causing hyperkinesis and disturbances in muscle tone. Initially, for this purpose, destruction of the medial segment of the globus pallidus was carried out (see Pallidotomy), which gave positive effect in approximately half of the patients. In the 60s surgical 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 the crust, in order to increase the effectiveness of treatment, a combined destruction of the ventrolateral nucleus of the thalamus and the subthalamic region is performed (see Campotomy), which makes it possible to obtain a significant and lasting improvement in more than 80% of patients. In the local form of T., destruction of the basal nuclei of the brain is carried out on the side opposite to the side of the body on which there are disturbances of muscle tone and hyperkinesis. In the generalized form of T., two operations are usually performed with an interval between them of approximately 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 ongoing diseases. After stereotactic operations, hyperkstesis and muscle rigidity in most cases they decrease or disappear.

As a result, patients are able to walk and take care of themselves, 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 family of a patient with T. should be under the supervision of a medical genetic consultation (see). Parents of a child 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 psychiatrist., t. 78, no. 8, p. 1121, 1978; Davidenkov S. N. Hereditary diseases nervous system, M., 1932; he's the same Clinical lectures By nervous diseases, V. 3, p. 154, L., 1957; Kandel E. I. Functional and stereotactic neurosurgery, M., 1981; Kandel E. I. and Voityna S. V. Deforming muscular torsion dystonia, M., 1971, bibliogr.; Cooper I. S. and Polukhin N. M., Chemopallidectomy for parkinsonism and juvenile extrapyramidal hyperkinesis, Vopr. neurokhir., no. 3, p. 3, 1958, bibliogr.; Multi-volume guide to neurology, ed. S. N. Davidenkova, vol. 7, p. 296, L., 1960; Shamova T.V. Familial torsion dystonia, in the book: Essays wedge, neurol., ed. G. N. Davidenkova, V. 1, p. 61, L., 1962; van B 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. Psychiat. 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. Psychiat. (Chic.), v. 51, p. 305, 319, 1944; H e r z 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 (surgeon).

Torsion dystonia. Clinic, diagnosis, treatment, prognosis

Dystonia is a type of involuntary violent movement caused by slow contraction of the muscles of the limbs, trunk, neck, and face. Torsion dystonia (idiopathic generalized dystonia, deforming muscular dystonia)

It is transmitted in an autosomal dominant and autosomal recessive manner. Most often begins during puberty, but possibly more late start. In the first stages it can manifest itself in a local form - blepharospasm, or a segmental form - spastic torticollis. During the course of the disease there may be spontaneous remissions. There are two clinical variant: at hyperkinetic-dystonic form, the increase in plastic tone is not constant, increases with voluntary movements, in a standing position and when walking (especially dystonia of the trunk muscles - torsion); dystonia improves when lying down.

At rigid-hypokinetic form An increase in plastic tone, different in individual muscle groups, leads to pathological posture settings (deforming dystonia). The second form is associated with congenital slowly progressive dystonia, combined with signs of parkinsonism and pronounced fluctuation of symptoms during the day (Segawa syndrome, juvenile dystonic parkinsonism).

For the rigid-hypokinetic form, DOPA-containing drugs are used, which are especially effective in juvenile dystonic parkinsonism. For the hyperkinetic-dystonic form, the following sequence of drug administration can be recommended: 1) anticholinergics (trihexyphenidyl); 2) baclofen; 3) carbamazepine; 4) clonazepam; 5) reserpine, which depletes dopamine reserves in presynaptic depots; 6) neuroleptics – dopamine receptor blockers (haloperidol); 7) a combination of the more effective listed remedies.

Symptomatic (acquired) torsion dystonia is usually a manifestation of cerebral palsy. Pharmacotherapeutic approaches are the same as for torsion dystonia.

A progressive neurological disease, the main syndrome of which is uncontrolled tonic contractions of various muscle groups, leading to the development of pathological postures. Accompanied by various variants of hyperkinesis, it can lead to curvature of the spine and joint contractures. Diagnosis is based on the exclusion of other pathologies and secondary torsion dystonia. Treatment is carried out with antiparkinsonian drugs, anticonvulsants, antispasmodics, B vitamins. Surgical treatment is possible - stereotactic destruction of subcortical structures.

General information

Torsion dystonia (from Latin “torsio” - twisting) is a chronic pathology of the nervous system, leading to tonic muscle disorders with the formation of aphysiological postures and the occurrence of hyperkinesis. The first detailed description of the disease dates back to 1907, but at that time it was classified as hysterical neurosis. The organic nature of torsion dystonia was proven by G. Oppenheim in 1911, but even after that, for a long period its nosological affiliation was the subject of debate, and its pathogenesis still remains unstudied.

Torsion dystonia can be observed at different age periods, but most often debuts before the age of 20; 65% of cases occur in the first 15 years of life. The occurrence in various populations ranges from 1 case per 160 thousand people. up to 1 case per 15 thousand people, on average - 40 cases per 100 thousand population. Steady progression, leading to disability in young people, and the lack of effective pathogenetic therapy make torsion dystonia an urgent problem of modern neurology.

Causes of torsion dystonia

The etiology and pathogenetic mechanism resulting in muscular dystonia have not been studied to date. Idiopathic and symptomatic cases of this pathology are known. With the development of molecular genetic research, it became clear that idiopathic torsion dystonia is hereditary. Data have been obtained on various types of its inheritance: autosomal recessive and autosomal dominant. Moreover, in the second case, the disease manifests itself at a later age and has a milder course. At the same time, sporadic variants are described in the literature. Symptomatic torsion dystonia is observed in cases of Huntington's chorea, epidemic encephalitis, Wilson's disease, traumatic brain injury, and cerebral palsy.

Presumably, torsion dystonia is associated with a violation of dopamine metabolism. When examining patients, elevated levels of dopamine hydroxylase in the blood are often detected. The dominant pathogenetic theory is the idea that tonic disorders in this disease are caused by a disorder of subcortical regulation. This is supported by pronounced morphological degenerative changes in the subcortical nuclei (subthalamic, basal, red, substantia nigra), often detected in patients.

Classification of torsion dystonia

The focal form is characterized by tonic spasms of individual muscles. Focal forms include: idiopathic blepharospasm - closure of the eyelids caused by tonic spasm of the orbicularis oculi muscle; oromandibular dystonia - contraction of the muscles of the masticatory group, tongue, cheeks and mouth; spastic dysphagia - difficulty or inability to swallow; spasmodic dysphonia - a disorder of voice formation due to tonic contraction of the vocal muscles; writer's cramp - involuntary contraction of the hand muscles, causing writing impairment; neck muscle spasm; foot spasm.

Multifocal form- represents various combinations of focal forms.

Segmental form- involuntary contraction of several adjacent muscle groups.

Hemidystonia- involuntary tonic contraction covers the muscles of half the body.

Generalized form- uncontrolled tonic contractions, covering almost all muscles of the body.

Symptoms of torsion dystonia

As a rule, torsion dystonia debuts with periodically occurring tonic focal spasms, observed mainly when the muscle group affected by dystonia is loaded. For example, at the beginning of its development, writer's cramp appears only during writing. Involuntary spastic contractions correspond to uncontrolled motor acts (hyperkinesis). The latter can be athetoid, choreatic, myoclonic, tonic, hemiballic, tic-like or tremor-like in nature. In the distal parts of the limbs they are less pronounced than in the proximal ones. Rotational movements of the torso or limbs along their longitudinal axis are typical.

Pathognomonic is a change in the intensity of spastic postures and involuntary motor acts in accordance with the functional activity and position of the body, as well as the emotional state of the patient. Corkscrew-like movements of the torso are observed mainly during walking, hyperkinesis of the limbs - when trying to perform a purposeful action. During sleep, the disappearance of all tonic pathological manifestations and hyperkinesis is observed. The ability of patients to adapt to the emerging movement disorders, temporarily reduce the severity of hyperkinesis, maintain self-care and perform complex motor acts (for example, dancing) is noted.

Frequent muscle contractions can cause the development of their hypertrophy, prolonged spasm is connective tissue replacement of muscle tissue with the formation of shortening of the muscle and a persistent decrease in its ability to stretch. Long-term forced position of a limb during muscle spasm leads to degenerative processes in articular tissues and the formation of joint contractures. Tonic spasms of the back muscles cause curvature of the spine: lumbar lordosis, scoliosis or kyphoscoliosis. In later stages, spasms of the trunk muscles can cause respiratory problems.

In some cases, torsion dystonia begins with local forms, which gradually transform into a generalized version. The latter is characterized by an elaborate gait with swaying, periodic adoption of an abnormal pose and freezing in it. In some patients, the disease has a stable course with the preservation of isolated local manifestations and without generalization of the dystonic process. A similar course is observed mainly in cases of late onset (in the period from 20 to 40 years).

Diagnosis of torsion dystonia

In the neurological status, attention is drawn to the rigidity of individual muscle groups with the preservation of tendon reflexes, the absence of a decrease in muscle strength and sensory disorders; intellectual-mnestic safety of patients.

The main diagnostic task for a neurologist is to differentiate idiopathic torsion dystonia from secondary torsion-dystonic syndromes. The latter are usually accompanied by accompanying dystonia symptoms of damage to the nervous system, autonomic disorders, sleep disorders, etc. In terms of differential diagnosis, REG or USDG of the vessels of the head, EEG, Echo-EG, CT or MRI of the brain are performed.

Torsion dystonia differs from hepatocerebral dystrophy in the absence of pigment deposits in the cornea (Kayser-Fleischer ring), liver damage, and a decrease in blood ceruloplasmin. From epidemic encephalitis - the absence of an acute period and such manifestations of encephalitis as convergence disorder and diplopia, sleep disorder, autonomic dysfunction, etc.

Treatment of torsion dystonia

In conservative therapy, drugs are used to treat parkinsonism: combined decarboxylase inhibitor levodopa + carbidopa, anticholinergics trihexyphenidyl and dietazine, triperiden, selegiline, bromocriptine; centrally acting antispasmodics (diphenyltropin); a-DOPA in small doses; tranquilizers (diazepam); vitamins B1 and B6. When hyperkinesis is severe, baclofen, carbamazepine, and tiapride are used. Physical therapy and hydrotherapy are indicated. Treatment of secondary dystonia is based on treatment of the causative disease.

Surgical treatment is performed by a neurosurgeon and is indicated for progression of dystonia and disability. Stereotactic combined destruction of basal subcortical structures is carried out - the subthalamic zone and the ventrolateral thalamic nucleus. In local variants of dystonia, destruction is carried out contralateral to muscle disorders. In the generalized version, as a rule, surgical treatment is carried out in 2 stages: first, opposite to the most severe symptoms, and after 6-8 months. - on the second side. If rigidity is expressed symmetrically, then the dominant hemisphere is operated on first. In 80% of cases, after surgery, there is a significant improvement in the patients’ condition, which in 66% of cases persists for many years.

Forecast of torsion dystonia

Idiopathic torsion dystonia has a slowly progressive course. The outcome is determined by the time of its manifestation. An earlier debut leads to a more severe course and early generalization of dystonia with the development of deep disability. The death of patients is caused by intercurrent infections.

Surgical treatment significantly improves the prognosis. In most cases, after surgery, regression or complete disappearance of hyperkinesis and rigidity is observed; for a long period, patients retain the ability to self-care, are able to walk and perform other complex motor acts. Secondary torsion dystonia, if effective treatment of the disease is possible, has a favorable prognosis. In such cases, regression of spasms and hyperkinesis of varying severity is observed.