Ataxia

What is ataxia?

Disorder consisting in lack of muscle coordination, which makes it difficult to perform voluntary movements: this is the definition of ataxia specified by the "A.I.S.A., the" Italian Association for the fight against Ataxic Syndromes.

Ataxia, inserted - together with dystonia - among dyskinesias, is a disorder involving the nervous system, which is characterized by the gradual, albeit inevitable, loss of motor-muscular coordination; in other words, "ataxia causes" inability progressive movement, often associated with muscle pain.
To make the concept better, we report an example. The mild form of ataxia is comparable to the walk of a drunkard; in fact, a subject in the grip of an alcoholic intoxication has an evidently uncertain bearing: he advances at different steps, with a "different amplitude" from each other. "gait is not straight and the state of intoxication makes it difficult to maintain an upright position."

Generality

An ataxic subject presents movements of reduced or excessive amplitude, the gait is not stable, but uncertain and shaky; moreover, the uncoordination between the movements is established between the trunk and the head, between the trunk and the arms or, again, between the legs and the trunk: for these characteristics, a patient with ataxia tends to fall. In ataxic syndromes, there is simultaneous spasms and contraction of antagonistic muscle bundles.
Considering that muscle movements are controlled by the cerebellum, directly connected to the spinal cord and peripheral nerves, any lesions at the level of these sites can generate ataxia: the cerebellum represents, in fact, the center for regulation and coordination of voluntary muscle movements; a hypothetical damage localized in the center of the cerebellum is able to block the interconnection between the other sections of the CNS, generating mild ataxia, typical walking of the state of intoxication. When, on the other hand, a seat is injured lateral of the cerebellum, there is a hemitaxia, which involves, that is, only half of the body, corresponding to the compromised half-brain.
There are also genetic forms of ataxia, that is, transmitted from parent to child.

Degeneration of ataxia

Ataxias, and the corresponding ataxic syndromes, are subtle disorders, which begin with few signs, but degenerate slowly and progressively. Generally, the first manifestations involve the legs, then the arms, and then also affect the voice, compromising speech articulation (speech ataxia), muscles, hearing and sight. [taken from www.atassia.it]

Ataxia and ataxic syndromes

By convention, the terms ataxia And ataxic syndrome they are used indiscriminately, since they refer to the same disorders. In reality, it would not be entirely correct, since "ataxic syndrome" indicates a set of disabling genetic diseases, while "ataxia" represents the main symptom, as well as the progressive loss of the ability to perform a voluntary and controlled movement, directed towards the correct direction. With the inevitable negative evolution of ataxia, the subject shows a clear worsening of motility, accompanied by a pain of variable intensity but always present, responsible for the overall worsening of the ataxic syndrome.

Incidence

Ataxic syndromes are quite rare: in Italy, it is estimated that around 5,000 people are affected. Unfortunately, however, the prognosis is not good, since ataxic syndromes are often heavily disabling diseases of the CNS, which are characterized by a slow but progressive loss of muscle control and motor coordination.
The incidence of ataxic syndromes is not well known: however, it seems that 4.5-6.4 subjects per 100,000 healthy individuals are affected [taken from Pediatric neurology, by Lorenzo Pavone, Martino Ruggieri].
The age of onset of the very first ataxic manifestations varies according to the type of ataxia: for example, the target of Friedreich's ataxia is given by infants.

Ataxia and associated diseases

It is not uncommon for ataxia to be accompanied by other disorders, of more or less severe intensity, such as: incontinence, swallowing difficulties, uncoordinated and slow eye movements, and other uncontrolled and involuntary gestures of the head, trunk and lower limbs or higher. In some cases, ataxia can also lead to memory loss, and the neurological damage could generate cardiac disorders and bronchopulmonary complications [taken from www.atassia.it].

More info: A.I.S.A. onlus

In order to encourage immunological-genetic-molecular scientific research on ataxias, in 1982, in Lombardy, AISA was born, the "Italian Association for the fight against Ataxic Syndromes, legally recognized by the Ministry of Health only in 1995: this" The association, made up of volunteers, has the objectives of promoting forms of ataxia prevention, of informing and sensitizing the population, and of supporting ataxic patients, helpless in the face of this disabling pathology.