Deforming muscle dystonia is a chronic progressive disease characterized by changes in muscle tone and slow rotational movements of the trunk and limbs. The disease was first described by Schwalbe in 1908. At first, it was regarded as a kind of neurosis. In 1911, Oppenheim substantiated the organic nature of suffering.
Pathological anatomy and pathogenesis of deforming muscular dystonia
Morphological changes in the brain with deforming muscular dystonia are very uncertain. In some cases, non-gross disorders in the subcortical ganglia were found in the form of a decrease in the number of small neurons in putamen , some nuclei of the thalamus. In the pathogenesis of the disease, a certain role is played by disorders in the dopaminergic system, similar to those in Parkinson’s syndrome, but in the presence of a bilateral imbalance of the dopamine content in the striatum.
Etiology of deforming muscular dystonia
Distinguish between hereditary and symptomatic forms of deforming muscular dystonia. Inheritance transmission can be carried out both by an autosomal dominant and an autosomal recessive type. The syndrome of deforming muscle dystonia is noted in a wide variety of processes: hepatolenticular degeneration, epidemic encephalitis, cerebral palsy, etc. In the vast majority of cases, the etiology of the disease remains unclear.
Clinic of deforming muscular dystonia
As a result of the uneven tension of different muscle groups, the body bends to the side, forward or backward, twists along the longitudinal axis; the head leans forward, backward or to one side; the limbs are unnaturally bent or unbent, the whole body takes an elaborate, unusual position. Violent movements increase dramatically with emotional stress, an attempt to perform any purposeful movement, when moving to an upright position while walking. In the supine position, muscle tension and violent movements decrease and completely disappear during sleep or with general anesthesia. Prolonged contractions of individual muscle groups are often accompanied by their hypertrophy and the occurrence of intense pain. Despite gross violations of posture, patients can move on their own for a long time, deftly adapting to existing tonic disorders. “Paradoxical kinesia ” is sometimes noted , which is manifested in the fact that a patient who moves with noticeable difficulty can freely dance, move sideways or backwards, and follow a stroller or a mobile chair. Mimic muscles usually do not suffer, however, hyperkinesis of oral muscles can be so pronounced that the patient severely injures his lips and tongue with his teeth. Hyperkinesis makes it difficult to speak. Swallowing, as a rule, is not broken.
Clinical examination reveals a significant change in muscle tone in the affected limbs, the severity of which can vary widely – from severe hypertension to hypotension. Often there are
athetoid movements in the hands, deformity and incorrect position of the feet. Prolonged fixation of the foot or hand in the wrong position may be accompanied by: the development of soft tissue fibrosis and degenerative changes in the joints with the formation of contractures.
Pyramidal signs, sensitivity disorders are not characteristic of deforming muscular dystonia. The psyche? does not suffer. Enlarged spleen, liver damage usually do not occur. The Kaiser – Fleisher ring is absent. However, in the pathogenesis of some cases of the disease, importance is attached to impaired copper metabolism.
Depending on the prevalence of dystonic phenomena and the accompanying motor disorders, generalized and local forms of the disease are distinguished . As a rule, these forms do not pass one into another, except in those cases when local symptoms are the initial manifestations of a generalized form. The onset of the disease usually refers to childhood (2/3 of the children fall ill before age 15). The process can grow rapidly, but can develop slowly. Remissions of different durations are possible. The disease, especially its generalized form, inevitably leads to death, patients rarely live up to 45 years