ATAXIA: SYMPTOMS AND CAUSES

Ataxia: introduction

From the literal translation, the term "ataxia" indicates a disorder, as well as a disorderly condition, lacking in muscle order and coordination. The absence of motor control is a symptom of many complex pathologies: just think that about 300 pathological forms with genetic transmission including some form of ataxia have been identified. However, sometimes, ataxia remains the only prodrome of the disease (typical of hereditary forms). After having drawn a general picture of the symptoms, in this article we will analyze the main triggers of ataxia.

Preliminary requirements of genetics: to understand

The vast majority of ataxic syndromes are genetically transmitted, which means that parents pass the disease on to their children. However, ataxia can be inherited in two ways:

Autosomal dominant inheritance: it is sufficient for only one parent to be affected by dominant ataxia to pass the mutated gene to the child, regardless of sex.

Autosomal recessive inheritance (e.g. Friedreich's ataxia): only when both of them the parents are healthy carriers of a recessive gene - although none of them have any ataxic symptoms - the offspring, inheriting one copy of the abnormal gene from both parents, will have ataxia.

Symptoms

Ataxic syndromes do not all start with the same symptoms, since the onset manifestations depend on the severity of the ataxic disease and, above all, on the triggering cause. The initial symptoms of hereditary ataxia are different from the acquired forms, ie consequent to 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, clinical evidence has shown that, as the disease progresses, the voluntary muscles respond less and less to brain impulses, therefore 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 childhood for forms such as Friedreich's ataxia, to adulthood for other forms.
Generally, ataxia involves coordination and balance of the limbs, hands and feet; verbal modulations are also among the first symptoms: the patient struggles to speak, and the pronunciation is not very understandable.
As we have seen, the ataxic symptoms worsen over 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 o talking requires more and more effort on the part of the patient.
In case of severe ataxia, postural and motor alterations can degenerate to the point of being even fatal: ataxia, in fact, could involve not only the respiratory and swallowing muscles, but also cause serious cardiac complications, thus inducing death (in in particular, it is cardiomyopathy, typical of Friedreich's ataxia).
Early diagnosis of ataxia and knowledge of the related symptoms are essential, since ataxic syndromes can sometimes conceal an infantile malignant neoplasm: when the child tends not to control movements, to lose balance and to present an abnormal gait , it is good to contact the neurologist as soon as possible. The tumor hidden by ataxia, if treated in 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 the kinetic disorder and, above all, the triggering causes. Ataxia, in fact, can result from recurrent, sporadic, acute or chronic etiological factors.
From a biochemical-molecular point of view, the "origin of ataxia" dates 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 alters , gradually but irreversibly, the functionality of the CNS, thus affecting the cerebellum - the control center for motor coordination - and the areas connected to it, such as the brain stem, the spinal cord and, possibly, also the cerebral hemispheres [taken from www .atassia.it /].
Ataxia could be the consequence of more or less serious pathologies, such as, for example, infections, intoxication from drugs, alcohol or chemicals (prolonged exposure to pesticides / toxins), multiple sclerosis and demyelinating diseases in general, neurovegetative pathologies, neoplasms malignancies, emboli, sickle cell anemia and vascular problems in general. Sometimes, even the lesions at the level of the dorsal columns are possible causes responsible for ataxia.