DYSTONIA: CAUSES AND DIAGNOSIS

Movement disorder

As can be guessed from the complexity of the kinetic disorder, the search for the causal factors attributed to dystonia represents an almost articulated task, a rather intricate enigma that must be solved, considering the hypothesis of a possible evolution of the disease and its complication. In any case, only by digging at the root of the problem will it be possible to identify the risk factors and the causes responsible for the dystonic manifestation: in fact, through the identification of the causes a correct and indisputable diagnosis can be drawn up, so as to be able to direct the patient towards the most suitable therapies.

Causes

In some publications of Dystonia Medical Research Foundation (DMRF), it is clear that, often times, the causes related to the manifestation of dystonia are not identifiable: researchers have not yet been able to identify which biochemical process triggers the dystonic symptoms. Therefore, we will have to wait a few more years to ascertain precisely the aforementioned “mechanism of dystonia”, a hypothetical common thread of all dystonic forms.
Currently, the Research has come to some interesting conclusions: it is well established that dystonia could be a consequence of both trauma and the intake of particular pharmacological substances for long periods (neuroleptic-antipsychotics). Furthermore, there is no doubt that the mutation of some genes (eg. DYT1) may be responsible for dystonic manifestations; however, despite the aforementioned causal explanations demonstrated, neither the real origin of the dystonic disorder, nor what happens inside the organism to originate the symptoms. [taken from www.dystonia-foundation.org]
Based on the causal factor, dystonic forms are classified into:

primary dystonia (dystonic symptoms are the only neurological signs of the disease, which manifest themselves, most of the time, only with tremor)

secondary dystonia (the causes lie in: neoplasms, taking some neuroleptic drugs, stroke, etc.)

dystonia plus (myoclonic dystonia and DOPA responsive dystonia: they are characterized by additional neurological disorders that are much more disabling than primary dystonia).

From this classification it can be deduced, therefore, that also other pathologies of the nervous system can cause dystonia; these include strokes, tumors, multiple sclerosis, head trauma, bacterial infections, neonatal brain damage, etc.
Finally, in some subjects suffering from dystonia, the causes of origin reside in hereditary diseases affecting some areas of the nervous system (heredodegenerative pathologies) [taken from www.distonia.it]

Diagnosis

Currently, doctors do not have a single and standard diagnostic test to confirm the hypothesis of a presumed dystonia; the clinical evaluation of the patient allows to observe and verify the symptoms of the dystonic form, in order to obtain a complete, albeit initial, diagnosis. First, the doctor must know the patient's history and investigate any family illnesses, after which the specialist may prescribe some laboratory investigations (eg urine, blood and cerebrospinal fluid analysis).
In addition, doctors have diagnostic tools available to exclude some forms of disease (eg secondary dystonias), such as "brain MRI (Brain Magnetic Resonance) and CT (" diagnosis by images ", computed tomography, capable of reproducing body areas of the patient three-dimensionally, via X-rays) and diagnostic tools known as neuroimaging.
Furthermore, the diffusion of nerve impulses between adjacent muscles and the concomitant activation of agonist and antagonist muscles are diagnosed through an "electromyographic investigation of muscle activity (EMG); electromyography is an important diagnostic tool, useful for identifying the muscles involved. in the disease, indispensable for the most appropriate therapy choice. For cases of dystonic severity, the molecular genetic diagnostic test can be used.
In any case, in order to draw up a correct diagnosis, the specialist (usually the neurologist) must "be able to identify all the signs and symptoms of the kinetic disorder, as well as identify the possible triggering causes, when possible. [ taken from www.dystonia-foundation.org]