The torsion dystonia

Description:

The torsion dystonia (the deforming muscular dystonia, the torsion spasm) belongs to hereditary a disease of holes of a nervous system and is characterized by peculiar "rotary" hyperkinesias, changes of a muscle tone and formation of pathological poses. The first description of the torsion dystonia was given to W. Schwalbe in 1908, but heated debates about her nosological independence of an etiology, a pathogeny, treatment are still conducted. Though in the family described by W. Schwalbe three brothers and sisters were sick, it regarded an ego a disease as "psychogenic", functional and only N. Oppenheim in 1911 proved its organic nature, but denied hereditary character. And in the next decades a part of researchers denied nosological independence of the torsion dystonia Most of authors recognized and recognize existence of this disease, both in the form of symptomatic forms, and in the form of independent nosological unit in which etiologies the main role is played by genetic factors.

Prevalence of the torsion dystonia among the general population makes 1:160 Ltd companies, and among some ethnic groups these figures are much higher.

Genetic data. The first researchers denied the hereditary nature of the torsion dystonia that was caused by insufficiently developed diagnostic criteria, and also a large number of sporadic cases. Further at first the point of view about an autosomal and recessive mode of inheritance of a disease, and then - about exclusively autosomal and dominant type with limited penetrance began to prevail. On the Philippine Islands families with the H-linked mode of inheritance are described.

Reasons of the Torsion dystonia:

The etiology of the torsion dystonia is still insufficiently clear. The main role is assigned to an imbalance of the central neurotransmitters, especially dopamine, acetylcholine, noradrenaline, serotonin, GAMK, etc. within nigrostriarny and strionigralny trunk systems. It is important to emphasize that these disturbances are various at different forms of a disease. At rigid (dofa-dependent) forms of the torsion dystonia were revealed the expressed decrease dofaminergichesky and increase in cholinergic activity, and at a hyperkinetic (dofanezavisimy) form the opposite phenomena are established. Changes in dofaminergichesky system are confirmed by results of studying of maintenance of a metabolite of dopamine (gomovanilinovy acid) in cerebrospinal fluid of patients. Low content of gomovanilinovy acid at rigid forms is established and high at hyperkinetic. Thus, to clinical polymorphism of torsionkny dystonia there corresponds also biochemical polymorphism that is important for development of the differentiated treatment.

Symptoms of the Torsion dystonia:

The torsion dystonia is characterized by the expressed phenotypical polymorphism concerning age of the patient at emergence of the first symptoms of a disease, clinical manifestations, diseases, reactions to pharmacological drugs. Manifestation of the first symptoms of a disease, as a rule, belongs to children's and youthful age (from 5 to 20 years) though fluctuations from 1 year to 70 years are described. The disease nakchinatsya usually gradually, from involvement of any group of muscles of legs, hands, a neck or a trunk.
The classical description of a disease is given by S. N. Davidenkov (1925): "Beginning at children's age it is also unceasing progressing further, this disease is expressed mainly in emergence of very peculiar rotary voluminous spasms in muscles of extremities, trunks and necks that leads to development of extremely fancy and floridly changing convulsive installations...". Most often (41%) at healthy to this child because of hyperkinesias, disturbances of a tone and periodic change of a pose of a leg (a clubfoot, pes equinovarus) appear difficulties when walking. At first these symptoms are changeable, but then become longer and extend to other parts of a body — other leg, hands, and is frequent also on muscles of a neck and a trunk. Depending on localization of the dystonic phenomena distinguish generalized and local forms of the torsion dystonia. According to modern classification local forms of the torsion dystonia share on focal, segmented (involvement of two adjacent areas), multifocal (two non-adjacent areas) and гемидистонин, and dependence of age of the patient at an onset of the illness and extent of generalization is revealed. Focal forms at damage of face muscles, either necks, or throats are shown in the form of a nictitating spasm, a lockjaw, oromandibulyarny dystonia, a front paraspasm (a syndrome of Meydzha — Bruegel), "a spastic wryneck", a spastic dysphonia; quite often "writer's cramp", "a dystonic leg" develop. A certain dependence of age of the patient at an onset of the illness and extent of progressing, and also weight of a disease is established. The earlier there are disease symptoms, the quicker it progresses with development of severe generalized forms. Local forms quite often are only a stage of generalized forms. However, local forms remain isolated with a part of patients and stable. As a rule, local dystonic forms are observed at patients with later onset of the illness — after 25 — 35 years.
Except classical forms of the torsion dystonia, more rare peculiar syndromes are described. The so-called periodic, paroxysmal dystonias (paroxysmal dyskinesia) which are earlier described under the name "intentsionny spasm of Ryulf" concern to them. At these forms suddenly there are short-term hyperkinesias and change of poses of a body, is more often on a gemitipa, but sometimes and bilateral, priyasny consciousness More often they are provoked by the sudden unprepared movement (kinezogenny forms), sometimes without them (nekinezogenny forms) In separate families the myoclonic dystonia of Davidenkov described by it in 1926 To dystonic phenomena meets carry now and a peculiar "syndrome of uneasy legs". Big variability of hyperkinesias, poses is characteristic of the torsion dystonia. At certain positions, receptions (corrective gestures, paradoxical kinesias) the pathological phenomena considerably decrease. So, some hardly the moving patients can run, dance, go freely a back forward.
The course of the torsion dystonia, as a rule, progressing, but extent of progressing of a disease different also depends as it was specified, from age of the patient at an onset of the illness the earlier demonstrates a disease, the quicker it progresses.
Depending on features of a current, clinical symptoms and their localization various classifications of the torsion dystonia Rational were offered allocation of separate forms depending on the characteristic of the most clinical syndrome is. Allocation of two forms of the torsion dystonia — rigid and dystonicly - hyperkinetic is reasonable. The first is characterized by the raised muscle tone (rigidity) and development of the fixed pathological poses, is more often in legs, but sometimes also in hands, a neck, a trunk. At the second form dystonic hyperkinesias are observed, local or generalized Progressing of a disease at rigid forms, as a rule, softer Gradually easy parkinsonopodobny symptoms some slowness of movements, a peculiar static (dystonic) tremor can join pathological poses. Dominance of damage of female faces In the Russian population is noted the big specific weight of rigid forms of the torsion dystonias — 43% whereas in other populations - 10 — 12% is revealed. Characteristic disturbances of metabolism and high performance of use of small doses of dofasoderzhashchy drugs at rigid forms allowed to pull together them with the dofazavisimy forms described in literature.

Treatment of the Torsion dystonia:

On the basis of features of a clinical syndrome and the revealed disturbances of metabolism of neurotransmitters treatment at rigid forms of the torsion dystonia turned out dofasoderzhashchy drugs (the NAC, Sinemetum, Madoparum) highly effective ("drama" effect), promoting bystry (within several days) to decrease in a muscle tone, disappearance of pathological poses, up to "normokopirovaniye" (85%). Effectiveness of treatment at rigid forms of the torsion dystonia is much higher, than at parkinsonism: patients need low doses of L-dofa and a nakom at absence (or emergence of unsharp) collateral symptoms. The positive effect of continuous treatment by small doses of L-dofa of patients with rigid forms of the torsion dystonia within 20 — 25 years was observed. Thus, use of L-dofa at rigid (dofazavisimy) forms of the torsion dystonia is means of the choice that finds confirmation and at other authors. At some patients it is reasonable to combine a levodopa with Bromocriptinum (the dopamine agonist selectively increasing sensitivity of D2-retseptorov) and yumeksy (monoamine oxidase inhibitor of type B). This complex scheme of treatment allowed to avoid those unsharp complications which arose at certain patients (dyskinesia). It is important to emphasize that efficiency of dofasoderzhashchy drugs remained high irrespective of severity and duration of a disease.