Here is the description of the symptoms related to hereditary ataxia which are variable from one person to another and from one form to another. Ataxia is also a neuromuscular disease.

The symptoms are the consequence of the poor functioning of the different regions of the central nervous system and of the channels of connection by which information reaches them.

The cerebellum is responsible as the “centre of coordination”. The lack of coordination which results from it affects the lower and the upper limbs, the trunk, the neck and it has repercussions on the level of walking, standing, on all fours, kneeling, crouching, sitting, control of gestures, control of speech, the starting and the stopping of an action. It also affects the fingers, the hands, speech and the ocular movements.

The cerebellum is responsible for the complex movements of walking or of movement.

The first symptom to appear is without any doubt the loss of balance which comes about insidiously and very slowly at the beginning of the disease. The person has an uncertain walk. The distance between his feet is not regular. It becomes impossible to walk in a straight line. The person staggers and attempts of adjust his balance with difficulty. His about-turn is unstable. His walk reminds one of that of a person in a state of intoxication.

The movements of walking are poorly coordinated and the upper part of the body does not follow the movement of the legs and the body stays behind, which brings about a heeling walk. Standing, in a natural position, the inclination of the body to the back does not provoke flexing of the thighs.

Walking with a walker can have the opposite effect. The head will be propelled toward the front as well as the trunk and the movement of the legs follows. In both cases, one must take a fresh look at the pattern of the walk and the help of a physiotherapist proves to be necessary.

The movements of the arms, in walking, are balanced. It is supposed that they help to maintain equilibrium.

Balance on the level of posture while standing

The ataxic person while standing spreads his feet in order to keep his balance. He needs to see and to have a reference point which will help him to maintain his stability. This exercise is impossible with the eyes closed for the person will become dizzy and fall.

In the sitting position

The holding up of the trunk and the head are unstable. The head will often be inclined or too advanced. A support is necessary to avoid a fall.

With the evolution, other symptoms will come to be added. All these troubles emanate from lesions of the cerebellum.

 

The problem is on the level of the articulation, the tonality and the delivery. The words are thick. The person does not really realize it. He does not hear himself speak. If one has him listen to his voice, he will be surprised and will observe the problem.

The tonality is variable. In the same sentence, it can be bursting out, explosive, and end in softness. No order is respected. The person is himself surprised at it and shy. The quantity of oxygen used to allow a good force is important and the delivery will be more and more restrained because of fatigue and the respiratory problem.

Some persons prefer, in this case, not to speak in order to avoid embarrassing people who ask them to repeat and to repeat again.

Before making their speech, the persons tell us that they must reflect on the technique (pronunciation, inspiration, expiration) to the point that they forget what they wanted to communicate. There is no more automation. They must think of everything and these steps are often very laborious and require a lot of concentration.

 

 

 

Writing is less and less easy. The movements are less and less coordinated. To write words on a straight line is a challenge. The format of each letter can be different and each one be not completely formed. To draw a straight line or a circle is impossible. The line will be cut up and the circle not closed and cut up. Writing becomes a complete exercise which proves to be a big expenditure of energy and time. They have to forget automation and sequence all the necessary gestures to arrive at their goal (taking up the pencil, the weight of the pencil on the sheet for the uniformity of impression, the formation of the spelling, the alignment of words, etc.). And this, often without result or so little. (long live computers)

The cerebellum is responsible for the mechanisms of swallowing. Lesions of the centres of swallowing, nervous genes situated in the central nervous system prevent the mouth and the oesophagus from functioning adequately. Motor problems affect the muscles necessary for chewing and swallowing, which can bring about breathlessness.

Ataxia being a neuromuscular disease, it affects the muscles of respiration. The diaphragm is the principal inspiratory muscle. Inspiration is assured by a coordinated contraction. It is necessary to count on the expiratory muscles so that the diaphragm lifts up and returns to its normal position. It is the contraction of the respiratory muscles which distends the thoracic cage provoking inspiration and expiration. The weakness of these muscles provokes in an ataxic person a respiratory difficulty which manifests itself by breathlessness, even for moderate work.

Ataxic persons show difficulty to accomplish several actions while maintaining their breathing. To converse, to walk and to breathe simultaneously becomes difficult.

The cerebellum seems to organize the balancing of these functions carried out jointly. There is no longer automation. One action must dominate another.

The betrayal of these automations is mental anguish.

 

The oculomotor troubles are considered as characteristics of the cerebellar syndrome. The jerking or the trembling of the eye (nystagmus) is produced in a transitory manner, when the eyes return to their primary position after an eccentrically held period of looking.

Spasms are the exaggeration of the tonus. The spastic muscles are in a state on involuntary contraction in the person, which brings about a certain muscular volume. It is especially the muscles of the lower limbs and the trunk which are affected. On this subject, the ataxic person will say that his legs are stiff and that his trunk is poorly positioned.

The spasms present obstacles when walking, moving and bring about a degree of discomfort even when sitting.

The spasms predominate generally on certain muscles. This preponderance and the maintaining of prolonged positions (seated in a wheelchair) bring about the retraction of the muscles (decrease in length).

The spasms exert a great force on the muscles from which bone deformations can result. The spasms increase very often with fatigue, emotions and again with weather conditions.

Daily medication well dosed can stop or diminish the spasms or a surgical operation consisting of cutting the tendons may be necessary. The spasms can be present for a more or less long period of time. A pain is perceived and the degree is variable. The tolerance varies from one person to another.

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