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Close concept: the torsion dystonia
Dystonic movements and dystonic poses. Distinguish several types of pathological involuntary movements: tremor, chorea, athetosis, myoclonia and dystonia. The dystonic movements represent the pathological involuntary movements of parts of a body around longitudinal the ode (from here the term "the torsion dystonia") of which stay in the provision of maximum deviation within a second or more is characteristic. If duration of finding of a muscle in a condition of reduction exceeds minute, the pose in which at the same time there is a patient is called a dystonic pose. Patients can be in such pose within several hours or days, and sometimes — during the entire period of wakefulness. The contractures arising in the subsequent and ankiloza can give to poses constant character. In hard cases of a disease dystonic poses are noted also during a dream. At easier forms of a disease the dream leads to elimination of involuntary movements and all other types of motive frustration.
Motive dystonia. At motive dystonia the dystonic movements arise in various parts of a body during autokinesias. Usually thus initial symptoms of primary muscular dystonia are shown, and in general motive dystonia represents the earliest and easy form of dystonic movements. Rotary motions of the lower extremity of walking which are absent in a sitting position, pathological spasms of muscles of a hand during the letter which are not observed at rest, and also pathological spasms of phonatory bands during conversation can be in time examples. More severe form of motive dystonia is emergence of dystonic movements in various parts of a body during performance of autokinesias in some one part of a body. For example, during the letter or conversation there can be dystonic movements of a trunk, neck, person or legs. Such distribution of dystonic movements was gained by the name of a hyperkinesia.
Generalized, segmented and focal dystonia. The diatonic movements and poses can arise in any part of a body. If at the same time any one part of a body is involved, such disturbance is called focal dystonia. If process covers more than one part of a body and these parts adjoin to each other (for example, a neck, a hand and a trunk), the term "segmented dystonia" is used. If process takes at least one hand and an opposite leg, this disturbance is called generalized dystonia. Primary dystonia usually arises in one part of a body, i.e. represents focal dystonia. In process of progressing dystonia becomes segmented, and then generalized. Usually than the age at which there is muscular dystonia is less, especially development of generalized dystonia and vice versa, than the age at which it develops is more, that a high probability is probable that dystonia will remain segmented. Exist various, forms of focal dystonia, the majority of them has specific names. Their description is provided further.
Paroxysmal dystonia. Refer the dystonic movements or poses which arise suddenly to paroxysmal dystonia or a paroxysmal dystonic choreoathetosis and have passing character. Emotions, exhaustion after an exercise stress, and also alcohol intake or caffeine can be a releaser of such movements or poses. Duration of dystonic poses reaches several hours. Paroxysmal dystonia should be distinguished from other paroxysmal motive disturbances, for example an epileptic seizure, a paroxysmal ataxy or the pafoksizmalny choreoathetosis arising during movements. The last results from sudden movements, proceeds within several seconds or minutes and represents more the horeopodobny than dystonic movements.
Slow dystonia. The dystonic movements can be result of chronic use of psychotropic drugs. This form of dystonia which received the name of slow dystonia is similar to slow dyskinesia which represents faster, repeating motive disturbances caused by the specified drugs. Unlike slow dyskinesia, slow dystonia can arise both at adults, and at children. As well as at classical primary dystonia, motive disturbances can be focal, segmented or generalized.
Forms of focal dystonia
Dystonia of muscles of the head. The nictitating spasm represents a sharp smykaniye a century as a result of long reduction of circular muscles of an eye. It can be followed by reduction of other muscles innervated by a facial nerve, for example a frontal or malar muscle. Reductions can cover also muscles of the lower part of the person.
Oromandibulyarny dystonia represents the reductions covering the muscles located around a mouth, and a mandible muscle. The mandible can be brought to an upper jaw therefore teeth at the patient are gritted, or is displaced from top to bottom that leads to long opening of a mouth. Muscles of a mandible are innervated by a trifacial. Along with them the muscles of the lower part of the person innervated by a facial nerve can be reduced: circular muscle of a mouth, hypodermic muscle of a neck and mental muscle.
The combination of a nictitating spasm and oromandibulyarny dystonia received the name of a syndrome of Meyzha in honor of the French neuropathologist who for the first time described this state.
The specified three forms of dystonia of muscles of the head usually are noted at rest. Their expressiveness can decrease under the influence of certain factors. For example, conversation, singing, purring and meal usually suppress oromandibulyarny dystonia and a nictitating spasm. Less than in 10% of cases of dystonia of muscles of the head are shown more often during movements, than at rest. The speech act is the most widespread starting moment of motive dystonia of face muscles.
Dystonia of muscles of language. Dystonia of muscles of language means the involuntary movements of language and more often arises in the form of motive dystonia, than a steady vystupaniye of language forward which meets rather seldom. The excess vystupaniye of language arises during conversation, chewing or swallowing. Dystonia of muscles of language can be partial display of oromandibulyarny dystonia.
Spastic dysphonia. The dysphonia belongs to displays of dystonia of muscles of a throat. The most common form is the spastic dysphonia at which the jingling discontinuous voice as a result of motive dystonia of phonatory bands which can be followed by reduction of muscles of a throat is noted. At the movement phonatory bands too close adjoin to each other, creating thereby an obstacle to an air flow, passing between them. As a result of the patient can say too long sounds "with" and "з".
Respiratory dysphonia. Less common form of dystonia of muscles of a throat is the respiratory dysphonia. At this state phonatory bands are too far apart; there are weak sounds and the patient in states to pronounce some words then there is a need for the next breath. As the flow of the air passing through a throat is too big, sounds "with" and "з" can be said only shortly.
Wryneck. Dystonia of muscles of a neck received the name of a wryneck. At this state the head is usually turned and the chin is rejected to a shoulder. Quite often the shoulder is raised, and sometimes displaced kpered. The head can adopt and other provisions, for example, to be unbent (a back wryneck), bent (a front wryneck) or inclined to any shoulder. The term "wryneck" is applied irrespective of position of the head. As to times there can be spasms of muscles or irregular twitchings of the head, the term "spastic wryneck" is sometimes used. Quite often the wryneck is combined with a head tremor which usually occurs in the horizontal plane.
Writer's cramp (graphospasm) and professional hyperkinesias. Focal dystonia of muscles of a hand usually begins in the form of the motive dystonia arising during cerebration, for example the letter. In spite of the fact that this disturbance received the name of a writer's cramp (or a graphospasm) also other functions in which performance the hand and a brush participate can be surprised. This form of dystonia occurs first of all at musicians, and also at people of other professions. During autokinesias there is an unusual reduction of muscles of fingers, brushes and hands therefore the upper extremity makes the unnatural movements. In process of progressing of a disease the pathological dystonic movements which first arose only during movements begin to be shown at rest, and spastic reductions can cover more proksimalno the located hand muscles.
Scoliosis, kyphosis and lordosis. Focal dystonia of muscles of a trunk can be shown in the form of a kyphosis, scoliosis, a lordosis or an inclination of a trunk in any party. First these pathological poses can be observed, only when the patient is in a standing position. If the disease progresses, they can arise in a sitting position and even lying.
Football player's leg. Focal motive dystonia of muscles, legs has no special name, it is probable because it is the most widespread place of initial displays of dystonia at children. However constant dystonia of muscles of a leg in informal conversation received the name "football player's leg". The motive dystonia of muscles of a leg arising during walking occurs at children more often than constant dystonia. Usually lower extremity during promotion forward at a step makes rotary motions or is thrown out forward. At many children the similar dystonic movements are noted only when walking forward and are absent at run or walking back. In process of progressing of a disease the unnatural movements of an extremity can be observed also at the last two types of a physical activity, and in the subsequent can arise and at rest: in a sitting position or lying.
Genetics of primary dystonia
Possibility of the torsion dystonia at several family members became known in 1908 from the message of Schwalbe though the author assumed that this fact is a consequence of psychological problems in a family. Afterwards there were several messages on inborn character of the torsion dystonia, however this concept admitted not everything until Zeeman described several families with accurate an autosomal and dominant mode of inheritance of a disease and paid attention that at some family members less expressed clinical displays of a disease, for example a spastic wryneck, a nictitating spasm, a writer's cramp (graphospasm), a spastic dysphonia, a kyphoscoliosis or the football player's leg can be noted. To this list, perhaps it is possible to add stutter. Zeeman paid attention that at healthy family members and at patients the accompanying tremor can be observed. Other authors also point to this phenomenon.
Eldridge noted the high frequency of developing of the torsion dystonia among Jews of group of Ashkenazi, and more often dystonia is shown at children's age. He explained the find with an autosomal and recessive mode of inheritance. On the basis of the conducted researches Eldridge and Gottlieb calculated that genes carriers of this disease meet frequency of 1 on 65, and the illness affects 1 of 17 000 representatives of this ethnic group. Recently Korzin and soavt., studying a hypothesis of an autosomal and recessive mode of inheritance and on the basis of research of cases of the torsion dystonia in Israel came to conclusion that this disease from Jews of an ethnic group of Ashkenazi it is inherited on autosomal dominantly type with low extent of manifestation. Their theory is based on supervision that in some families the torsion dystonia meets in two generations. The question of a mode of inheritance of dystonia remains unresolved as Eldridge was shown that defeat of two generations is possible if the patient marries the disease carrier, increasing thereby probability of emergence of sick posterity that reminds an autosomal and dominant mode of inheritance and is called pseudo-dominance. The pseudo-dominance can take place in groups of the population with high frequency of genovariations if marriages happen in these groups. Therefore, the consensus concerning hereditary transfer of dystonia among Jews of group of Ashkenazi does not exist.
Other hereditary form of the torsion dystonia of which, according to the description, the recessive mode of inheritance connected with a floor is characteristic meets on the island of Panay (Philippines). From 28 cases of the torsion dystonia described on Philippines 23 are connected with the island of Panay.