Torsion dystonia. Pathogenesis of torsion dystonia. Classification of torsion dystonia

Torsion dystonia (lat. 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 the defeat of the extrapyramidal system. characteristic feature etc. is a fluctuating, uneven distribution muscle tone in separate parts of the body, accompanied by peculiar hyperkinesis, often with rotational movements. The disease is rare. Men are more often ill.

In the etiology of Etc., 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. 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-service of patients is difficult, however, 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 do not have s, 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 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 violations 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- + tomos tension; synonyms: torsion, deforming muscle, progressive torsion spasm)

chronic progressive, which is based on the extrapyramidal system. A characteristic feature of T. d. is the changing, uneven distribution of muscle tone in certain parts of the body, accompanied by peculiar 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, causing 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 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 muscles of the eyes. Develop with infectious lesions senior researcher (epidemic encephalitis, ... ... Medical Encyclopedia

Torsion dystonia is a chronic progressive disease of the nervous system, clinically manifested by changes in muscle tone and involuntary, tonic contractions of the muscles of the trunk and extremities.

Etiology and pathogenesis

There are idiopathic (family) torsion dystonia and symptomatic. The type of inheritance in idiopathic torsion distance is both autosomal dominant and autosomal recessive. Symptomatic torsion dystonia occurs in hepatocerebral dystrophy, Huntington's chorea, brain tumors, epidemic encephalitis, childhood cerebral palsy. There are indications that in the pathogenesis of hereditary torsion dystonia, a violation of dopamine metabolism is important. Examination of these patients revealed an increase in dopamine-p-hydroxylase in the blood serum.

Pathomorphology

Dystrophic changes are found mainly in small neurons in the shell of the lenticular nucleus, less often in other basal ganglia.

Clinical picture

The disease develops gradually, in 2/3 of cases under the age of 15 years. IN childhood the first symptoms of the disease may be gait disturbance, spastic torticollis; in adults, primary-generalized forms are more common. As a result of a violation of the ratio of the function of synergistic and antagonist muscles, violent long-term tonic contractions of the muscles of the trunk, head, pelvic girdle, and limbs occur, usually of a rotatory nature, combined with athetoid movements in the fingers. It seems that the muscles are constantly contracting to overcome the action of antagonists. Postures that arise, even the most uncomfortable ones, persist for a long time. Hyperkinesis is aggravated by excitement, active movements disappear in a dream. Muscle tone, which varies in the limbs, is often somewhat reduced. The joints are loose. Gradually, as the disease progresses, the patient's posture becomes permanently dystonic, with increased lumbar lordosis, hip flexion, and medial rotation of the arms and legs. Depending on the prevalence of dystonic phenomena, local and generalized forms of the disease are distinguished. With local dystonic symptoms, a tonic contraction of individual muscle groups occurs, voluntary movements are disturbed, and an abnormal posture occurs. Such symptoms include spasmodic torticollis, writing spasm, oromandibular dystonia (mouth opening and closing and involuntary tongue movements), blepharospasm, buccofacial, buccal-lingual dystonia, choreoathetosis.

Course and forecast

The disease in most cases is steadily progressing. Sometimes noted different duration remissions. Rapidly there is a deep disability of patients and comes death, especially in the generalized form.

Treatment prolonged, symptomatic. Combinations of anticholinergics and sedatives, in some cases effective levodopa. Haloperidol or reserpine is also prescribed. Very rarely resort to stereotaxic operations on the subcortical nuclei.

Torsion dystonia, deforming muscular dystonia, dysbasia lordotica progressiva is a chronic progressive disease characterized by slow tonic hyperkinesis of the muscles of the trunk and limbs and peculiar changes in muscle tone; leading to the appearance of pathological postures.

Distinguish torsion dystonia as independent disease and torsion-dystonic syndrome, which can be a manifestation of various diseases (hepatocerebral dystrophy, epidemic encephalitis and other neuroinfections, intoxications, consequences birth injury, arteriosclerosis).

Torsion dystonia - hereditary disease with a heterogeneous type of transmission. The disease can be inherited both dominantly and recessively. Dominant inheritance is more common.

An important role in the pathogenesis of torsion dystonia is played by violations of the central regulation of muscle tone, as a result of which the mechanism reciprocal innervation and a pathological "antagonist spasm" occurs, which leads to the development of peculiar hyperkinesis and postural disorders.

The primary biochemical defect associated with hereditary pathology in torsion dystonia is not yet known.

In the brain, degenerative changes in subcortical formations are found.

There are generalized and local forms of torsion dystonia.

The generalized form is characterized by the presence of pronounced widespread tonic hyperkinesis, covering the muscles of the trunk, neck, and limbs. As a result of these hyperkinesias, the body bends in different directions, bends according to the type of rotation around the longitudinal axis. Often there are bizarre curvature of the spine, often with the formation of pathological lordosis. The head is sharply thrown back, leans to the sides or forward, the limbs occupy various, often unusual, pretentious poses. Deformities and contractures in the joints gradually develop. Hyperkinesis sharply increases with voluntary movements, especially when walking. Hence one of the names of the disease is disbasia lordotica (from the Greek basis - walking, dys - denial). Despite this, patients can retain the ability to move independently for a long time. IN horizontal position in a state of complete rest, violent movements are sharply reduced, and in initial stages diseases disappear completely. During sleep, hyperkinesis is absent. In some cases, in addition to slow tonic hyperkinesis, other types of violent movements may also occur.

Changes in tone are characterized by a combination of extrapyramidal rigidity and hypotension and depend on the position of the body in this moment or from a certain posture. In advanced cases, muscular rigidity predominates in the trunk and limbs. The muscles of the face, tongue, pharynx, intercostal muscles may also be involved in the process, which leads to impaired speech, breathing, and swallowing.

The local, or limited, form of torsion dystonia, which is more frequent, is characterized by a change in tone and hyperkinesis, extending only to individual groups muscles or individual limbs. Often develops in the legs incorrect installation foot, resulting in changes in gait. Torsion-dystonic changes in the hands can cause the development of the syndrome of writing spasm. One of the frequent forms of local torsion dystonia is spastic torticollis (torticollis spastica). In this condition, tonic hyperkinesis in the muscles of the neck leads to its curvature and violent turning of the head. It should, however, always be remembered that local manifestations of the disease can be initial symptom slowly progressing generalized torsion dystonia.

The first symptoms of the disease usually appear between the ages of 5 and 15 years. The generalized form begins in more early age, while the appearance of symptoms of local torsion dystonia may refer to more mature age(from 20 to 40 years). In the future, the disease slowly but steadily progresses. As a rule, the disease is more severe in families with a recessive type of inheritance.

Torsion dystonia should be differentiated from symptomatic forms of the disease, which can occur with a number of pathological conditions. Exogenously caused phenocopies of the disease (consequences of birth trauma, neuroinfections, intoxications) are distinguished by the non-progressive nature of the disease, pronounced asymmetry pathological process, the presence of other (except tetrapyramidal) symptoms of damage to the nervous system.

Torsion dystonia should be distinguished from hepato-cerebral dystrophy, mainly from its early, ripid-arrhythmohyperkinetic, form, in which similar neurological symptoms. Hepato-cerebral dystrophy is also characterized by the onset of the disease in childhood and steady progression. However, unlike torsion dystonia, with hepato-cerebral dystrophy, there is severe liver damage, which, when early form usually detected clinically or laboratory methods research. characteristic feature characteristic only of hepato-cerebral dystrophy are specific changes in copper metabolism and the presence of the Kaiser-Fleischer corneal ring. Patients with hepato-cerebral dystrophy have mental disorders, which, as a rule, are absent during torsion distance.

Torsion dystonia differs from double athetosis in a progressive course, a later onset of the disease (with double athetosis initial signs diseases appear more often in the first weeks or months of a child's life), the spread of hyperkinesis mainly to the muscles of the trunk and proximal limbs, while with double athetosis, slow "worm-like" hyperkinesis covers mainly the distal limbs.

What is torsion dystonia and other articles on the topic of neurology.

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.

General information

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 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 muscular 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, Huntington's chorea, epidemic encephalitis, Wilson's disease, traumatic brain injury, cerebral palsy.

Presumably, torsion dystonia is associated with impaired dopamine metabolism. Examination of patients often reveals elevated level blood dopamine hydroxylase. 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. IN distal parts limbs they are less pronounced than in the proximal. Rotational movements of the trunk or limbs along their longitudinal axis are typical.

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

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 forced position limbs at muscle spasm leads to dystrophic 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 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 ultrasound of the vessels of the head, EEG, Echo-EG, CT or MRI of the brain is performed.

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

IN 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. Physiotherapy exercises, hydrotherapy are shown. 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 hyperkinesis 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.