Ataxia: introduction
From the literal translation, the term "ataxia" indicates a disorder, as well as a disordered condition, lacking in order and muscular coordination. The absence of motor control is a symptom of many complex pathologies: it is sufficient to think that approximately 300 pathological forms with genetic transmission have been identified, including some form of ataxia. However, sometimes the ataxia remains the only prodrome of the disease (typical of hereditary forms). After tracing a general picture of the symptoms, in this article we will analyze the main causes triggering ataxia.
Preliminary genetic requirements: to understand The vast majority of ataxic syndromes are genetically transmitted, which means that parents transmit their disease to their children. However, ataxia can be inherited in two ways:
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Symptoms
Ataxic syndromes do not all begin with the same symptoms, since the onset manifestations depend on the severity of the ataxic pathology and, above all, on the triggering cause. The initial symptoms of hereditary ataxia are different from the acquired forms, consequently resulting in secondary pathologies. However, the various types of ataxia are all accompanied by a common factor: the slow but progressive and unstoppable degeneration of ataxic symptoms. Strictly speaking, the clinical evidence has shown that, as the disease progresses, the voluntary musculature responds less and less to the cerebral impulses, therefore the motor uncoordination becomes more and more marked and evident.
The age of onset of the first ataxic symptoms varies according to the different forms: from the infantile age for the forms such as Friedreich's ataxia, to adulthood for other forms.
Generally, ataxia involves the coordination and balance of limbs, hands and feet; among the first symptoms are also verbal modulations: the patient struggles to speak, and the pronunciation is not very understandable.
As we have seen, ataxic symptoms get worse with time: as the disease degenerates, the patient's gait becomes increasingly unstable and uncertain, the coordination of the limbs is progressively less controlled; even the simplest activities, such as writing, eating or speaking require more and more effort from the patient.
In the case of severe ataxia, postural and motor changes can degenerate to such an extent that they are even fatal: ataxia, in fact, could involve not only respiratory and swallowing muscles, but also cause serious cardiac complications, thus inducing death (in particular, it is cardiomyopathy, typical of Friedreich's ataxia).
Early diagnosis of ataxia and knowledge of the related symptoms are indispensable, given that ataxic syndromes can sometimes conceal a malignant infantile neoplasm: when the child tends not to control movement, to lose his balance and exhibit an abnormal gait, it is good to contact the neurologist as soon as possible. The tumor concealed by the ataxia, when treated for time, could be definitively defeated, being particularly sensitive to chemotherapy treatments.
Causes
In order to obtain a correct diagnosis, many aspects must be considered, including the age of onset of ataxia, the patient's family history, any concomitant pathologies, the course of kinetic disorder and, above all, the triggering causes. In fact, ataxia can result from recurrent, sporadic, acute or chronic etiological factors.
From the biochemical-molecular point of view, the origin of ataxia goes back to the alteration of the genetic code of a gene; in other words, the "wrong" protein, synthesized by that mutated gene, generates a chain of events that inexorably, gradually but irreversibly alters the functionality of the CNS, thus affecting the cerebellum - control center for motor coordination - and the areas connected to it, such as the brain stem, spinal cord and, possibly, even the cerebral hemispheres [taken from www.atassia.it/].
Ataxia could be the consequence of more or less serious pathologies, such as, for example, infections, drug intoxication, alcohol or chemical substances (prolonged exposure to pesticides / toxins), multiple sclerosis and demyelinating diseases in general, neurovegetative diseases, neoplasms malignant, emboli, sickle cell anemia and vascular problems in general. Sometimes, injuries at the level of the dorsal columns are also possible causes of ataxia.
