From Big Medical Encyclopedia

The TORSION DISTONYYa (Latin torsio, torsionis rotation, twisting; Greek dys-+ tonos tension; synonym: the torsion spasm, the deforming muscular dystonia, the progressing torsion spasm, dysbasia lordotica progressiva) — the chronic progressing disease of a brain, to-rogo is the cornerstone defeat of extrapyramidal system. Its characteristic feature is the changing, uneven distribution of a muscle tone by separate parts of a body which is followed by peculiar hyperkinesias (see) is frequent with a vra-shchata of l n ymiy d in izhen and I am m and, 3 and at the left - ny meets seldom. More often men are ill.

For the first time a wedge, a picture it is Etc. described in 1907 Mr. of Shvalbe (M. by W. Schwalbe). He for many years observed a family, in two generations a cut there were 5 patients suffering in his opinion, hysterical neurosis, and actually — the torsion dystonia. In 1911 Oppengeym established that Etc. yav to a lyaeta I the body nches to them a zaboleva of N is mute a brain, the caused defeat of subcrustal nodes, proved that its reference to hysteria is wrong. The question of nosological accessory Etc. long time remained disputable. According to one scientists, Etc. — the independent hereditary caused disease. Other researchers not only did not attach significance to heredity in an etiology Etc., but also considered that there are only torsion and dystonic syndromes at pathology of extrapyramidal system of a different etiology — infectious and toxic encephalitis, a craniocereberal injury, a birth trauma, vascular diseases of a brain, etc. Now it is conventional that Etc. — the independent nosological form, in an etiology a cut major importance has a hereditary factor. The mode of inheritance is various. In one families the disease is inherited on autosomal type of dominants nomas, in others that meets more often — on autosomal recessive mu. Etc., inherited on the first type, it was traced throughout 2 — 3 generations, and in separate families in 4 — 5 generations. At autosomal and recessive inheritance cases of a consanguineous relation of parents were noted. Quite often sporadic cases Etc. meet.

The pathogeny is not established. Primary metabolic defect is not revealed. Assume that in a pathogeny disturbances of maintenance of catecholamines (see), preferential matter a dopamine. Pathophysiological essence Etc. is disturbance of subcrustal regulation of a muscle tone (see). At a pathoanatomical research find not rough degenerative changes in a cerebral cortex and more expressed in basal kernels, a red kernel, a lyyuisovy body (nucleus subthalamicus), black substance (substantia nigra), a gear kernel of a cerebellum.

Clinical picture. As a rule, first signs of T. appear at the age of 5 — 20 years. The course of a disease which is usually slowly progressing sometimes stationary. Etc., inherited on autosomes - but - recessively to type, often begins earlier and proceeds heavier, than at patients with an autosomal domi-nantpym with a mode of inheritance. The first symptoms of a disease are the involuntary movements in one, is more often than the lower extremity. At the same time patients have embarrassment of gait. Hyperkinesias gradually extend, they arise and amplify in attempts to change position of a body, to make any movement, during the standing, walking, contagious excitation.

Depending on localization of giiyerkinez allocate local and generalized forms of the torsion dystonia.


At a local form hyperkinesias of muscles of extremities and a neck develop. In extremities (in everyone) there can be various, sometimes elaborate involuntary movements — horea-tichesky, atetoidny, gemiballiche-sky, tikoobrazny, myoclonic, tonic spasms and trembling. Characteristic rotary motions are noted along a longitudinal axis of an extremity. In proximal departments of extremities hyperkinesias of a vyr * wives are stronger, than in distal. In nek-ry cases the hyperkinesia of muscles of the right hand can be shown a wedge, a picture of a syndrome of a writer's cramp (see). At the same time at the beginning of a disease spasms quite often arise only by the letter. Further spasms gradually extend also to other muscles of a hand which are not participating in the act of the letter (see the Spasm). Hyperkinesias of muscles of a neck cause sharp turns of the head back, forward, in the parties. At the beginning of a disease tonic trachelisms can remind a syndrome of a spastic wryneck (see). Further there are also other involuntary movements not inherent to a spastic wryneck. The local form meets much more often than generalized, its transition to generalized comes gradually in different terms from the beginning of a disease and is expressed by emergence of hyperkinesias of muscles of a trunk. Gradually they become more and more widespread and expressed. Due to the hyperkinesia of long muscles of a back the configuration of a backbone changes — there are its curvatures, overextension in lumbar and lower chest departments with a sharp lordosis (see) and a kyphoscoliosis (see the Kyphosis, Scoliosis). From time to time there are shtoporoobrazny movements of a trunk. A mustache ilivayuteya hyperkinesias of muscles of extremities, necks, and sometimes appear spasms of facial muscles. Disturbances of the speech can be observed. In pauses between hyperkinesias the muscle tone can be raised, lowered and is sometimes normal.

Short-term hardening of the patient in abnormal poses is quite often observed. Gait becomes elaborate, shaken («gait of a camel»). Self-service of patients is complicated, however they adapt to motive disturbances, they manage to reduce or eliminate temporarily arising hyperkinesias and to carry out the difficult movements, naira, to run, jump, dance. In position of the patient lying, at rest and at derivation of attention hyperkinesias stop or considerably decrease, during sleep do not arise. Patients have no paresis, koordinatorny, sensitive and pelvic frustration. Tendon jerks are kept, pathological reflexes are not caused. It is not observed intellektual-but-mnesticheskikh frustration. Prp an adverse current in late stages of a disease deformations of joints, muscular contractures of a trunk and extrapyramidal rigidity of muscles of a trunk, extremities, persons, language, a throat can develop that is followed by disturbances of chewing, swallowing and breath.

The diagnosis establish on the basis a wedge, data. Usually it does not raise doubts if in a family there are cases Etc. In sporadic cases carrying out differential diagnosis with the torsion distoni-cheskimi the syndromes which are especially caused by a chronic form of epidemic encephalitis is necessary (see. What komo lethargic encephalitis) and hepatocerebral dystrophy (see). Differential and diagnostic value at epidemic encephalitis acute development of a disease, a sleep disorder, a diplopia has (see), insufficiency of convergence, an oculogyric spasm (see the Look paralysis, a spasm), vegetative frustration and in later stages symptoms of parkinsonism. Unlike Etc. at hepatocerebral dystrophy Kayser-Fleischer's ring (adjournment on the periphery of a cornea of eyes of the greenish-brown pigment containing copper), disturbance of exchange of copper with low content in blood of ceruloplasmin, cirrhosis is found.

Other diseases of extrapyramidal system proceeding from Torahs-sionno-distonichesknmi syndromes differ from Etc. that. that do not progress, are exposed to involution (in a varying degree) with reduction of frequency and expressiveness of hyperkinesias. In their wedge, a picture along with giperknne-za there are also other symptoms of damage of a brain which are not observed at Etc.

Treatment conservative and operational. Appoint Cyclodolum, artan, Norakinum, Dinezinum, Tropacinum, small doses of L-DOFA in combination with tranquilizers (Elenium, Seduxenum, etc.), vitamins of group B; conduct courses of remedial gymnastics (see. Physiotherapy exercises), balneotherapy (see). In late stages Etc. at deformations of joints and muscular contractures sometimes make orthopedic operations. At torsioi-but-dystonic syndromes treatment is directed to a basic disease, according to indications apply symptomatic means.

Operational treatment (stereotaxic operations) is shown when the disease progresses and deprives of the patient of working capacity and a possibility of self-service; contraindicated at a cachexia, a serious illness of internals, diseases of blood. The big duration and weight Etc. in late stages are not contraindications.

Stereotaxic operations on basal kernels of a brain (see. Stereotaxic neurosurgery) consist in destruction of one or two subcrustal structures that leads to a gap patol. appreciate, on a cut the impulses causing hyperkinesias and disturbances of a muscle tone circulate. Originally for this purpose made destruction of a medial joint of a pale sphere (see Pallidotomiya) that gave positive effect approximately at a half of patients. In the 60th operational treatment began to be performed Etc. by a talamotomiya (see) — destructions of a ventrolateralny kernel of a thalamus, to Krom converge the ways connecting fundamental units of extrapyramidal system. In a crust, time for the purpose of increase in efficiency of treatment make the combined destruction of a ventrolateralny kernel of a thalamus and sub-tala of ohmic area (see Kampo-tomiya) allowing to receive considerable and permanent improvement more than at 80% of patients. At a local form Etc. destruction of basal kernels of a brain is made on the party, opposite that side of a body, on a cut there are disturbances of a muscle tone and hyperkinesias. At a generalized form Etc. carry out, as a rule, two operations with an interval between them approximately in 6 — 8 months. The first operation is usually carried out on the party opposite to more affected extremities. If defeat is expressed equally on both sides, then the first operation is made for recovery, first of all, of functions of the right hand at the left.

In the presence of the expressed hyperkinesias of operation carry out under anesthetic (see), in more mild cases (seldom) apply the local potentiated anesthesia (see Anesthesia local).

Forecast adverse. In a late stage patients quite often perish from pnterkurrentny diseases. After stereodachshunds of ichesky operations of a giperkshteza and muscular rigidity in most cases decrease or disappear.

Thereof patients have an opportunity to go and service themselves, to perform many necessary operations. According to E. I. Kandol, for many years after operation the result remained good with 66% of patients or was regarded as considerable improvement.

Prevention. The family of the patient with Etc. shall be under observation of medicogenetic consultation (see). To parents of the child, the patient Etc., recommend to refrain from a further child-bearing.

See also Hereditary diseases, Ekstr and a feast amide system. Bibliography: Barkhatova V. P. and

Markov E. D. Questions of a pathogeny and treatment of the torsion dystonia, Shurn. neuropath, and psikhiat., t. 78, No. 8, page 1121, 1978; D and in and d e N to about in S. N. Hereditary diseases of a nervous system, M., 1932; about N e, Clinical lectures on ’to nervous diseases, century 3, page 154, JI., 1957; To and N d e l E. I. Functional and stereotaxic neurosurgery, M., 1981; Kandel E. I. and In about y-t y N and S. V. The deforming muscular torsion dystonia, M., 1971, bibliogr.; Cooper I. Page and P about l ooh and N. M. N, Hemopallidektomiya at parkinsonism and youthful extrapyramidal hyperkinesias, Vopr. neyrokhir., No. 3, page 3, 1958, bibliogr.; The multivolume guide to neurology, under the editorship of

S. N. Davidenkov, t. 7, page 296, L., 1960; Sh and m about in and T. V. Family torsion dystonia, in book: Sketches wedge, nevrol., under the editorship of G. N. Davidenkova, century 1, page 61, L., 1962; van B about g and e of 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. Hoefer P. F. A. Spasmodic torticollis, ibid., v. 61, p. 129, 1949; R i m-b an u d L. Precis de neurologie, P., 1957; Schwalbe M. W. Eine eigentiimliche tonische Krampfform mit hysterischen Symptornen, B., 1908.

P. A. Tkachyov; E. I. Kandel (hir.).