Torsion dystonia in adults symptoms. Clinic and symptoms of the disease. Symptoms of torsion dystonia
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 muscle tone in separate parts of the body, accompanied by a kind of hyperkinesis (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. for a 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, traumatic brain injury, 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 rough 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 some cases, muscle hyperkinesis right hand the wedge, a picture of a syndrome of a writing spasm (see) can be shown. 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 causes sharp turns heads back, forward, to the sides. At the onset of the disease, tonic spasms neck muscles may resemble spastic torticollis syndrome (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 in different dates from the onset of the disease and is expressed by the appearance of hyperkinesis of the muscles of the body. Gradually, they become more common and pronounced. In connection with hyperkinesis of the long muscles of the back, the configuration of the spine changes - its curvature appears, hyperextension in the lumbar and lower thoracic 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 movement 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 does not raise doubts if there are cases of the disease in the family, etc. In sporadic cases, it is necessary to conduct a differential diagnosis with torsion-dystonic syndromes, especially due to chronic form epidemic encephalitis (see. Economical lethargic encephalitis) and hepato-cerebral dystrophy (see). Differential diagnostic value in epidemic encephalitis is acute development diseases, 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 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 therapeutic gymnastics(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 cachexia, serious illnesses 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 pale ball was destroyed (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 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 steady 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. AT 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; he, Clinical Lectures on Nervous Diseases, c. 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.).
Torsion dystonia. Clinic, diagnosis, treatment, prognosis
Dystonia is a type of involuntary violent movement caused by slow contraction of the muscles of the limbs, torso, neck, face. Torsion dystonia (idiopathic generalized dystonia, deforming muscular dystonia)
It is transmitted in an autosomal dominant and autosomal recessive manner. It often begins during puberty, but a later onset is also possible. At the first stages, it can manifest itself in a local form - blepharospasm, or a segmental form - spastic torticollis. Spontaneous remissions may occur during the course of the disease. There are two clinical variants: hyperkinetic-dystonic form, the increase in plastic tone is not constant, it increases with voluntary movements, in a standing position and when walking (especially dystonia of the trunk muscles - torsion); dystonia is relieved by lying down.
At rigid-hypokinetic form an increase in plastic tone, which is different in individual muscle groups, leads to pathological posture settings (deforming dystonia). The second form is adjoined by congenital slowly progressive dystonia, combined with signs of parkinsonism and a pronounced fluctuation of symptoms during the day (Segawa syndrome, juvenile dystonic parkinsonism).
In the rigid-hypokinetic form, DOPA-containing drugs are used, which are especially effective in juvenile dystonic parkinsonism. With hyperkinetic-dystonic form, the following sequence of prescribing drugs can be recommended: 1) anticholinergics (trihexyphenidyl); 2) baclofen; 3) carbamazepine; 4) clonazepam; 5) reserpine, which depletes dopamine in presynaptic depots; 6) neuroleptics - blockers of dopamine receptors (haloperidol); 7) a combination of more effective listed means.
Symptomatic (acquired) torsion dystonia is usually a manifestation of childhood cerebral palsy. Pharmacotherapeutic approaches are the same as for torsion dystonia.
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 spinal curvature and joint contractures. Diagnosis is based on the exclusion of other pathology and torsion dystonia of a secondary nature. Treatment is carried out with antiparkinsonian drugs, anticonvulsants, antispasmodics, B vitamins. Perhaps surgery- stereotaxic destruction of 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 falls on 1907, but at that time it was attributed to hysterical neurosis. The organic nature of torsion dystonia was proved by G. Oppenheim in 1911, but even after that, its nosological affiliation was the subject of discussion for a long period, and the pathogenesis still remains unexplored.
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 incidence 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 of people young age, lack of effective pathogenetic therapy makes torsion dystonia topical issue modern neurology.
Causes of torsion dystonia
Etiology and pathogenic mechanism, which results in torsion dystonia, has not been studied to date. known idiopathic and symptomatic cases this pathology. With the development of molecular genetic research, it became clear that idiopathic torsion dystonia is hereditary. Data received on various types her inheritance: autosomal recessive and autosomal dominant. Moreover, in the second case, the disease manifests itself in more late age and has more easy current. At the same time, sporadic variants have been described in the literature. Symptomatic torsion dystonia is observed with intracerebral tumors, Huntington's chorea, epidemic encephalitis, Wilson's disease, traumatic brain injury, cerebral palsy.
Presumably, torsion dystonia is associated with impaired dopamine metabolism. When examining patients, an elevated level of dopamine hydroxylase in the blood is often detected. The dominant pathogenetic theory is the idea that tonic disorders in this disease are due to a disorder of subcortical regulation. This is supported by pronounced morphological degenerative changes in the subcortical nuclei (subthalamic, basal, red, black substance), often detected in patients.
Classification of torsion dystonia
The focal form is characterized by tonic spasms of individual muscles. Focal forms include: idiopathic blepharospasm - closing of the eyelids caused by tonic spasm of the circular muscle of the eye; oromandibular dystonia - muscle contraction chewing group, tongue, cheeks and mouth; spastic dysphagia - difficulty or inability to swallow; spastic dysphonia - a disorder of voice formation due to tonic contraction of the vocal muscles; writing spasm - an involuntary contraction of the muscles of the hand, causing a writing disorder; spasm of the neck muscles; foot spasm.
Multifocal shape- represents various combinations of focal forms.
Segmental form- involuntary contraction of several adjacent muscle groups.
Hemidistonia- involuntary tonic contraction covers the muscles of half of the body.
Generalized form- uncontrolled tonic contractions, covering almost all the muscles of the body.
Symptoms of torsion dystonia
As a rule, torsion dystonia debuts with intermittent tonic focal spasms, which are observed mainly with a load on the muscle group susceptible to dystonia. For example, at the beginning of its development, writing spasm appears only during writing. Involuntary spastic contractions correspond to uncontrolled motor acts (hyperkinesis). The latter may be athetoid, choreatic, myoclonic, tonic, hemiballic, tic-like, or tremor-like. AT distal parts limbs they are less pronounced than in the proximal. Rotational movements of the trunk or limbs along their longitudinal axis are typical.
Changes in the intensity of spastic postures and involuntary motor acts are pathognomonic in accordance with the functional activity and body position, as well as the emotional state of the patient. Corkscrew-like movements of the body are noted mainly during walking, hyperkinesis of the limbs - when trying to perform a targeted action. During sleep, there is a disappearance of all tonic pathological manifestations and hyperkinesis. The ability of patients to adapt to the emerging motor disorders, temporarily reduce the severity of hyperkinesis, maintain self-service and perform complex motor acts (for example, dance) is noted.
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. Prolonged forced position of the limb muscle spasm leads to dystrophic processes in the 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 the later stages, spasms of the muscles of the trunk can cause respiratory problems.
In some cases, torsion dystonia begins with local forms, which gradually transform into a generalized variant. The latter is characterized by an artsy gait with swaying, periodic adoption of an abnormal posture 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 debut (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 muscle strength and sensory disorders; intellectual-mnestic safety of patients.
The main diagnostic task for a neurologist is the differentiation of 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 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 (Kaiser-Fleischer ring), liver damage, and a decrease in blood ceruloplasmin. From epidemic encephalitis - the absence acute period and such manifestations of encephalitis as convergence disorder and diplopia, sleep disorder, autonomic dysfunction, etc.
Treatment of torsion dystonia
AT conservative therapy drugs are used to treat parkinsonism: a combined decarboxylase inhibitor levodopa + carbidopa, anticholinergics trihexyphenidyl and dietazine, triperiden, selegiline, bromocriptine; antispasmodics central action(diphenyltropine); a-DOPA in small doses; tranquilizers (diazepam); vitamins B1 and B6. With the severity of hyperkinesis, baclofen, carbamazepine, tiapride are used. Shown physiotherapy, hydrotherapy. Treatment of secondary dystonia is based on the therapy of the causative disease.
Surgical treatment is performed by a neurosurgeon and is indicated for the progression of dystonia and disability. Produced stereotaxic combined destruction of the basal subcortical structures - subthalamic zone and ventrolateral thalamic nucleus. In local variants of dystonia, destruction is carried out contralaterally to muscle disorders. With a generalized variant, as a rule, surgical treatment is carried out in 2 stages: at first, the most opposite severe symptoms and after 6-8 months - on the other side. If rigidity is expressed symmetrically, then the dominant hemisphere is operated on first. In 80% of patients after surgery, there is a significant improvement in the condition of patients, 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 due to intercurrent infections.
Surgical treatment significantly improves the prognosis. In most cases, after surgery, there is a regression or complete disappearance of hyperkinesia and rigidity, for a long period, patients retain the ability to self-service, have the ability to walk and perform other complex motor acts. Secondary torsion dystonia if possible effective treatment disease has a favorable prognosis. In such cases, there is a regression of spasms and hyperkinesias of varying severity.
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Torsion dystonia (from Latin torsio - “rotation, twisting”; from Greek dys tonos - “tension”) is a chronic progressive disease of the brain, in which the extrapyramidal system is mainly affected. It is characterized by a changing, uniform distribution of muscle tone in individual parts of the body with accompanying characteristic hyperkinesias, often with rotational movements. it rare disease characteristic mainly of men.
Symptoms of the development of torsion dystonia
Usually the first signs of the disease appear at the age of 5-20 years. The disease is slowly progressive, rarely stationary. Torsion dystonia, which is inherited in an autosomal recessive manner, often occurs earlier and is more severe than in patients with an autosomal dominant pattern of inheritance.
- The first symptoms of torsion dystonia include involuntary movements in one, often lower, limb.
- At the same time, patients experience a feeling of discomfort during gait.
- Gradually, hyperkinesis spreads, which appear and intensify when trying to change the position of the body, make any movement, while standing, walking, emotional arousal.
In connection with different localization hyperkinesis secrete
local
and a generalized form of torsion dystonia.
Symptoms different forms torsion dystonia
With a local form, hyperkinesis of the muscles of the limbs and neck is formed. In the limbs (in each separately), various, sometimes fanciful involuntary movements may appear:
athetoid,
hemiballic,
myoclonic,
choreic,
tick-like,
tonic spasms
and shaking.
With symptoms of local torsion dystonia, rotational movements are observed along the longitudinal axis of the limbs. In the proximal parts of the extremities, hyperkinesis is more pronounced than in the distal ones. There are cases when hyperkinesis of the muscles of the right hand can be characterized by the clinical picture of the syndrome of writing spasm.
At the same time, in initial stage diseases spasms appear mainly only when writing. Then the spasms slowly spread to other muscles of the hand that are not involved in the act of writing. As a result of muscle hyperkinesis, sharp turns of the head back, forward, and to the sides appear. At the onset of the disease, tonic spasms of the cervical muscles may be similar to spastic torticollis syndrome. Then there are other involuntary movements that are not characteristic of spastic torticollis.
The local form of torsion dystonia is much more common than the generalized form. It passes into a generalized form gradually and at different times from the onset of the disease and is manifested by the occurrence of hyperkinesis of the trunk muscles. Gradually they become more and more pronounced. Due to hyperkinesis of the long muscles of the back, the configuration of the spine changes, its curvature occurs, overextension in the lumbar and lower thoracic regions with a sharp lordosis and kyphoscoliosis. Sometimes there are corkscrew-like movements of the body. Increased hyperkinesis of the muscles of the limbs, neck, and sometimes there are spasms of the facial muscles. There may be a speech disorder. During pauses between hyperkinesis, muscle tone is increased, decreased, and sometimes normal.
With symptoms of generalized torsion dystonia, a short-term freezing of the patient in abnormal postures is often noted. The gait is characterized by pretentiousness, swaying (“gait of a camel”). Self-care of the patient is difficult, but patients adapt to motor disorders, they are able to temporarily reduce or eliminate the resulting hyperkinesis and perform complex movements, such as running, jumping, dancing. When the patient lies, as well as at rest and with distraction, hyperkinesis stops, during sleep they do not appear. Patients do not develop paresis, coordinating, sensory and pelvic disorders. Tendon reflexes are preserved, pathological reflexes are not caused. There are no intellectual-mnestic disorders. With an unfavorable course in the late stages of torsion dystonia, it is possible to develop joint deformities, muscle contractures of the trunk and extrapyramidal rigidity of the muscles of the trunk, limbs, face, tongue, pharynx, which is accompanied by violations of chewing, swallowing and breathing.
Diagnosis of torsion dystonia
The diagnosis is made on the basis of clinical data. Basically, it is not in doubt if there are cases of torsion dystonia in the family. In cases of dispute, one should differential diagnosis with torsion-dystonic syndromes, especially manifested by the chronic form of epidemic encephalitis and hepato-cerebral dystrophy.
Differential diagnostic value in epidemic encephalitis is the acute development of the disease, sleep disturbance, diplopia, lack of convergence, gaze convulsions, autonomic disorders, and in the latest stages - Parkinson's symptoms. The difference between torsion dystonia and hepato-cerebral dystrophy is the Kaiser-Fleischer ring (deposition of a copper-containing greenish-brown pigment along the periphery of the cornea of the eyes), a defect in copper metabolism with a low content of ceruloplasmin in the blood, and cirrhosis of the liver.
Other diseases of the extrapyramidal system, which have torsion-dystonic syndromes, differ from torsion dystonia in that they do not increase, they undergo reverse development (to one degree or another) with a decrease in the frequency and severity of hyperkinesis. In their clinical picture hyperkinesis is accompanied by other symptoms of brain damage that are not characteristic of torsion dystonia.
How to treat torsion dystonia?
Treatment of the disease is conservative and surgical. They take Cyclodol, Artan, Norakin, Dinezin, Tropacin, small doses of a-DOPA in combination with tranquilizers (Elenium, Seduxen), B vitamins; conduct courses of therapeutic gymnastics, hydrotherapy. In the later stages of torsion dystonia, with joint defects and muscle contractures, orthopedic surgeries are sometimes used. With torsion-dystonic syndromes, therapy is aimed at the underlying disease, according to indications, symptomatic agents are prescribed.
Surgical removal of torsion dystonia
Surgical treatment (stereotactic operations) is used in cases where the disease progresses and deprives the patient of the ability to work and the possibility of self-care. Operations are contraindicated for cachexia, severe diseases of internal organs, blood diseases. The long duration and severity of torsion dystonia in the later stages are not contraindications.
Stereotactic operations on the basal ganglia of the brain are based on the destruction of one or two subcortical structures, which leads to a break in the pathological chain along which impulses circulate, causing hyperkinesis and defects in muscle tone. Previously, for this purpose, the medial segment of the globus pallidus was destroyed, which had a positive effect in approximately half of the patients.
In the 1960s surgical treatment of the disease began to be carried out by thalamotomy of the destruction of the ventral nucleus of the thalamus, to which the paths connecting the necessary links of the extrapyramidal system converge. Now, in order to increase the effectiveness of treatment, a combined destruction of the ventrolateral nucleus of the thalamus and the subthalamic region is carried out, due to which more than 80% of patients experience a stable and significant improvement in their condition.
With a local form of torsion dystonia, 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 torsion dystonia, two operations are usually performed with an interval between them of about 6–8 months. The first operation, as a rule, is performed on the side opposite to 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.
With severe hyperkinesis, the operation is performed under anesthesia, less often (in milder cases) local anesthesia is used.
Prognosis of treatment and prevention of torsion dystonia
The prognosis is unfavorable. In the late stage, patients often die from intercurrent diseases. After stereopathic surgery, hyperkinesis and muscle rigidity generally decrease or disappear.
As a result, patients can walk and serve themselves, perform many necessary actions. According to E. N. Kandel, in 66% of patients for many years after surgery, the result remained good or was assessed as a significant improvement.
Prevention of torsion dystonia
The patient's family should be under the supervision of a medical genetic consultation. Parents of a child with torsion dystonia are advised to refuse further childbearing.
Causes of torsion dystonia
The first manifestations of the disease were described by M. V. Schwalbe in 1907. Over the years, he observed a family that had 5 patients in two generations, suffering, in his opinion, from hysterical neurosis, but in fact - from torsion dystonia. In 1911 G. Oppenheim proved that torsion dystonia is an organic disease of the brain caused by damage to the subcortical nodes, and that attributing it to hysteria is erroneous. long time the question of the nosological affiliation of the disease remained controversial. Some scientists believed that it was an independent hereditary disease.
Others not only did not attach importance to heredity in the etiology of torsion dystonia, but were sure that there were only torsion-dystonic syndromes in violations of the extrapyramidal system of various etiologies: infectious and toxic encephalitis, traumatic brain injury, vascular diseases of the brain, birth trauma, etc. .
It is now established and generally accepted that torsion dystonia is an independent nosological form, in the formation of which the hereditary factor plays the main role. Inheritance is different. In some families, the disease is inherited in an autosomal dominant manner, in others, which happens more often, in an autosomal recessive manner. Torsion dystonia, inherited in the first case, is observed for 2–3 generations, and in other families for 4–5 generations. With an autosomal recessive type of inheritance, there were cases of consanguinity of parents. Sporadic cases of the disease have been reported.
Pathogenesis of torsion dystonia
The pathogenesis of the disease is not known. No primary metabolic disorder was identified. It is possible that disturbances in the content of catecholamines, mainly dopamine, are involved in the pathogenesis. The pathophysiological essence of torsion dystonia is characterized by a violation of the subcortical regulation of muscle tone. Pathological and anatomical examination reveals mild degenerative changes in the cerebral cortex and more pronounced ones in the basal nuclei, the red nucleus, the Lewis body (nucleus subthalamicus), the black substance (substantia nigra), and the dentate nucleus of the cerebellum.
Torsion dystonia (lat. torsio, torsionis rotation, twisting; Greek dys- + tomos tension; synonyms: torsion, deforming muscle, progressive torsion spasm)
chronic progressive, which is based on 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. is rare. Men are more often ill. In the etiology of Etc., the hereditary factor is of primary importance. inheritance is different. In some families, it 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. Primary metabolic was not identified. It is assumed that dysfunction of the dopaminergic systems of the brain is important in the pathogenesis. Pathological anatomical examination reveals mild degenerative changes in the cerebral cortex and more pronounced in the basal nuclei, the red nucleus, the Lewis, substantia nigra, and 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 in one, often lower, limb. At the same time, patients experience a feeling of awkwardness in gait. gradually spread, they arise and intensify when trying to change the position of the body, do anything, while standing, walking, emotional arousal. 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, tropacin, small doses of L-DOPA in combination with tranquilizers (elenium, seduxen, etc.), group B; conduct therapeutic gymnastics courses. In the later stages of T., with deformities of the joints and muscle contractures, orthopedic operations are sometimes performed. Stereotactic operations are indicated in cases where the disease progresses rapidly and deprives the patient of the ability to work and the possibility of self-care. The duration of the illness and severe course in the later stages are not contraindications to surgical intervention. Stereotactic operations on the basal nuclei of the brain (see. Functional neurosurgery) consist in the destruction of one or two subcortical structures, which leads to a break in the pathological chain through which impulses circulate that cause hyperkinesis and impaired muscle tone. After stereotactic operations, hyperkinesis and muscle rigidity in most cases decrease or disappear. Forecast adverse. In the late stage, patients often die from intercurrent diseases. Prevention. The family of a patient with T. should be under the supervision of a medical genetic consultation (see Medical genetic counseling) .
Parents of a child sick with Etc. are advised to refrain from further childbearing. Biographical: Diseases of the nervous system, ed. P.V. Melnychuk, vol. 2, p. 115. M., 1982; Gusev E.I., Grechko V.G., and Burd G.S. .
Nervous diseases. With. 618, M., 1988.
1. Small medical encyclopedia. - M.: Medical Encyclopedia. 1991-96 2. First health care. - M.: Bolshaya Russian Encyclopedia. 1994 3. encyclopedic Dictionary medical terms. - M.: Soviet Encyclopedia. - 1982-1984.
See what "torsion dystonia" is in other dictionaries:
torsion dystonia- Progressive brain disease, probably NZH; manifests itself in the form of rotational hyperkinesis; cases of inheritance both in an autosomal recessive and in an autosomal dominant manner have been noted. [Arefiev V.A., Lisovenko L.A. English… … Technical Translator's Handbook
Torsionic distonia torsion dystonia. Progressive brain disease, probably NZH; manifests itself in the form of rotational hyperkinesis; cases of inheritance both in an autosomal recessive and in an autosomal dominant manner have been noted. ... ... Molecular biology and genetics. Dictionary. Big Medical Dictionary
Dystonia torsion hereditary Synonym: Ziehen-Oppenheim disease. hereditary disease, manifested by torsion spasm (see) in children aged 5–15 years ( early forms) or in adults ( later forms). Patients rarely live to 40-45 years. Muscular dystonia is characteristic in ... ...
- (dystonia torsionica symptomatica) torsion dystonia syndrome, which occurs secondarily in some diseases of the nervous system (hepatocerebral dystrophy, epidemic encephalitis, etc.) ... Big Medical Dictionary
Dystonia torsion symptomatic- Manifestations of recurrent hyperkinesis by the type of torsion dystonia (see) in other diseases of the extrapyramidal system (epidemic encephalitis, hepatocerebral dystrophy, etc.) ... Encyclopedic Dictionary of Psychology and Pedagogy
Dystonia torsion- (disbasia lordosica progressiva) - a hereditary (with a recessive and dominant type of genetic transmission) chronic progressive disease, characterized by peculiar changes in muscle tone, slow tonic ... ... Encyclopedic Dictionary of Psychology and Pedagogy
- (Greek hyper + kinēsis movement) involuntary movements caused by contraction of the muscles of the face, trunk, limbs, less often the larynx, soft palate, tongue, external eye muscles. Develop with infectious lesions senior researcher (epidemic encephalitis, ... ... Medical Encyclopedia
