Dystonia

What is dystonia?

Among the movement disorders - known as dyskinesias - dystonia stands out, responsible for involuntary muscle contractions and spasms that force the subject to assume abnormal physical postures or to perform unusual, often painful movements. A dystonic patient is unable to assume a natural position again or, otherwise, he would be able to change the unusual position but gradually, using an abnormal effort and physical suffering that is sometimes exaggerated and vain.
The involuntary contractions of the muscles force the body to perform repetitive movements and uncomfortable and twisted postures; there are approximately 13 dystonic forms, sometimes typical of some severe pathological forms. Unfortunately, for most dystonias, there is no definitive cure; however, improvements can be obtained through the administration of specific pharmacological specialties, which we will analyze in the course of the treatment.

Incidence

For several years now, dystonia has been a cause of interest for many scientists: the first epidemiological study dates back to 1988, carried out in compliance with the guidelines for the recognition of dystonia, dictated by the Mayo Clinic in Rochester a few decades earlier. dystonia recorded 300 patients per million healthy subjects; after a few years, the statistics reported a much lower number of dystonic patients (110 per million in England, 60 in Japan). Probably, the statistical differences are due not so much to an "ideal" regression of the disease, but to a diversification of the survey techniques used.
Currently, it is estimated that in the USA 300,000 people are affected by dystonia, while in Italy 20,000 dystonic patients have been registered. More generally, dystonia occurs in 370 per million healthy individuals.
The disease can affect men, women and children of all ages without distinction; however, some studies have found a minimal female prevalence in some forms of dystonia, while in men it is believed that the legs and arms are the sites most affected by the disorder, despite each anatomical area of the body being considered potential target of the disorder .
Dystonia is one of the most common movement disorders, after Parkinson's disease and tremor.

Generality

Dystonia is a chronic disease and only rarely affects the cognition of the affected patient; it is also unlikely that dystonia is directly related to a decrease in an individual's life expectancy. In any case, it should be remembered that dystonia, when it manifests itself as a symptom of another pathology, could still generate short or long term complications.
Dystonia does not identify terminal pathologies; sometimes, however, involuntary muscle movements occur with such an intensity and frequency as to invalidate the affected patient, and to severely compromise his or her quality of life. Depending on the form of dystonia, the disease can generate different degrees of pain and disability, characteristics classified on an ideal rating scale (pain / disability: none - mild - medium - severe). Muscle contractions are protracted over time and are responsible for abnormal postures and repetitive, uncontrolled twisting movements; for some authors , the torsion of movements generated by dystonia is comparable to the movement of the snake [taken from www.distonia.it]
In any case, despite the multiple and heterogeneous forms of dystonia - in which patients express movements, postures and difficulties of different entities - there are two conductive elements, which all dystonic forms have in common: the frequency and the cadenced repetition of the anomalous contractions. involuntary muscles are diagnosed in all types of dystonia [taken from www.dystonia-foundation.org].
In some patients, the classic form of dystonia is also accompanied by extravagant movements within a specific context. To understand the concept, an example is given: during a simple action, such as writing, the patient with dystonia could present further movements bizarre atypical. This is action dystonia, in which the dystonic movements are worsened by the practice of voluntary movements: action dystonia appears precisely in conjunction with the execution of a desired gesture, however simple it is (eg . writing).

Age of onset

By "age of" onset "of dystonia we mean the age of the patient at which the first dystonic symptoms begin. Depending on the age, two first forms of dystonic disease can be distinguished, each of which will be further subdivided according to the general features:

Early onset dystonia (infantile - adolescent): the first alterations in muscle movement arise at an early age, during childhood or adolescence. Infantile forms of dystonia are quite rare; however, most of the time they appear at age 9 and mainly affect one limb.
Late-onset dystonia: dystonia appears after the age of 30, particularly between the ages of 40 and 60. Late-onset forms of dystonia are the most common.