Ataxia signifies a loss of the ability to execute coordinated voluntary movements. This trouble can afflict the limbs, the trunk, the neck, the head, breathing, swallowing, language, the pharynx, the larynx, and other structures. These troubles evolve progressively.
Friedreich’s ataxia generally begins to show its first signs at puberty, which corresponds with a stage of physical development in which the youth seeks self-enhancement in the eyes of others. The ataxia of Charlevoix-Saguenay is, on the other hand, present right from birth. The parents will notice that the child, during this stage of development, takes more time to go from the crawling position to the standing position. The child will have the tendency to fall more often than normally, to bruise himself, to be clumsy. At the adult age, the evolution of the disease will follow its course. Walking is more and more difficult from which follows recourse to a walker and to a wheelchair and writing is far from being easy.
In Friedreich’s ataxia, the afflicted person will feel the first symptoms of ataxia in the school environment and at home.
Friedreich’s ataxia is the most severe ataxia. There are secondary problems such as: cardiomyopathy and for some persons, diabetes. Life expectancy is less than normal.
The ataxia of Charlevoix-Saguenay is less severe than the Friedreich’s ataxia although very handicapping. It does not bring about secondary problems (such as cardiomyopathy and diabetes) and life expectancy remains unchanged. The disease begins at birth and the evolution is slow. This form of ataxia is characterized by numerous spasms.
*It is important to note that the ataxia materializes differently from one person to another and from one form of ataxia to another
He cannot explain what is happening and will do everything not to attract attention to his state. Some will even go so far as to simulate an unknotted boot lace, an uncomfortable shoe, in short, and excuse serving to exculpate this “gaffe”. These annoyances will be repeated many times in the future and will be more and more evident.
Hoping to prevent or to minimize this annoying problem, the person decides to lessen his walking speed to try to carry out the necessary corrections. His walk will not be moderate and “thoughtful”, that is to say, that all his attention and his concentration will be focused uniquely on his walking technique. He especially does not want to stagger and also, let’s admit it, be humiliated in front of his friends.
His only preoccupation will be to arrive at his destination as elegantly as possible, that is to say without loss of balance and in a straight line, if you please.
Reflection on the technique of walking, combined with the physical effort to arrive at his goal is far from being efficient. We remember the words of a song “…to walk, it is enough to put one foot in front of the other and to start over again”. Actually this means that everything should be done automatically. And yet ! The leg does not want to lift up to make the step and, if it wants to, it is not certain that it will step down where it should. No certainty as for the feet and the toes which should assure the thrust of the leg to make it advance, allowing the step. The person “wants to” but “cannot”.
It is because the problem is not situated on the level of the legs, but rather on the level of the central nervous system, and on this level, the person can control nothing.
The efforts to counter the problem are enormous but unfortunately futile. The person becomes discouraged and his morale takes a blow.
With time, other symptoms will come to be added. Skill and dexterity lessen. The person feels clumsy and he is perceived as such. He has difficulty to grasp an object at the first attempt and with ease, and frequently drops what he is holding in his hands.
With the evolution of the ataxia, all these difficulties are going to become more severe and it is with sadness and resignation that he has to give up certain sports and hobbies which no longer suits his former physical capabilities, as well as certain “friends” who do not seem to be worried about the situation. It is impossible to follow companions on their outings, they are too fast, too energetic! Everything must be thought over, life will be turned upside down.
A support for walking has become necessary. As for walls, there are not enough of them and especially not everywhere. It is impossible to stand on one’s toes to be taller and to grasp an object. Cupboards and shelves have become higher. Balance is precarious and muscular strength is weaker. The risk of falls remains high.
The new situation is frustrating and impossible to accept. Many ataxics will put their social circle aside and isolate themselves. The morale is not at its maximum.
After the “mourning period” (of his new state) and especially with the evidence of the situation, the persons realize that much work awaits them to take back control of their life. They must look for new centres of interest, new activities, make a new circle of friends and find a new goal which will better suit their new physical, psychological and emotional state.
The disease pursues its evolution. The lack of coordination reaches other muscles (the trunk, the neck, the head) which will also lose strength. The hand gestures are less and less precise and their directions are less and less assured. The trunk, even while sitting, vacillates. Many persons need help for their hygiene (to hold a towel, to reach the targeted place to wash, to brush his teeth, etc.), to dress himself (while sitting it is not that easy, to button up clothes is impossible, to put on pants or a sweater becomes a high-level exercise), to eat (to hold utensils, to direct them toward his mouth, to drink out of a container without spilling the contents, to swallow without choking) and to go to bed (while avoiding falling and turning over in the bed). The person is in a constant loss of autonomy.
One should note that fatigue can be felt even during moderate exercise. Spasms (stiffness in the legs) can be present several times a day and even while during rest at night. The spasms can disrupt the person’s sleep and be painful.
Simultaneously with all these problems, language becomes jerky and irregular. This trouble can become a real communication problem. One must talk about it with the speech therapist who will bring us information on treatments and pertinent technological apparatus.
In the cases of very severe ataxias, because of the incoordination of movements, a motorized wheelchair remains very difficult to manoeuvre, for the hands and the fingers are no longer able to hold the control to direct it. (This requires the help of a second person to activate it.)
*Ataxia cannot be cured but the symptoms can be treated by health professionals (physiotherapists, speech therapists, occupational therapists) and some medications such as neurorelaxants can help to control the spasms.
Ataxic persons who have kept a certain autonomy can pursue studies (the mental faculties are not affected). CEGEPs and universities offer services for handicapped persons.
Those who show a certain autonomy can live in adapted housing and receive financial help from the government. They also have recourse to household maintenance help. (The occupational therapist will study their needs.)
For persons of whom the loss of autonomy is severe and who require constant help, hospital centres for health care of long duration can come to be of assistance. The public centres are the jurisdiction of the government who defrays the costs.
The stage of childhood and adolescence being behind them, there is only left that the ataxia remains always present at the adult stage with evolving and “preoccupying” symptoms. One must now make plans for the adult and take on new responsibilities.
Other forms of ataxia have been discovered and manifest themselves only at an adult age.
Very often, the adult has completed his studies and finds himself in the workplace.
At home and at work, the person feels loss of balance and observes clumsiness on the level of the hands. He does not feel tired and is not taking medication. The troubles walking continue and worry leads to him consulting a doctor who directs the person to a neurologist who has him undergo several tests.
The results of the tests will confirm a form of ataxia. No antecedent in the immediate or distant family.
His walking is difficult and the help of a walker is necessary. The lack of dexterity and the clumsiness of his hands create a problem. Obviously, because of the incoordination, all the movements will be slower.
He avoids long outings which tire him and carrying heavy packages. He must analyze his situation and assure himself that his new state still suits the type of work which he does. If not, he must agree on new arrangements with his employer, whether for the tasks, the schedule or the lay-out of the office, or others.
He must take another look at the transportation system. Should he adapt his car ? Sell it ? Continue with public transportation ? One must not forget that the walker will always accompany the person.
The car will have to be parked near the entrance door of the building in order to lessen the number of steps and the fatigue which can result from it. Everything becomes relative to distance for the person will be more and more limited and tired during his outings.
On the side of safety, in case of a fall, how to alert another person ? In case of emergency, the reaction speed counts. The right wheelchair proves necessary to make fast outings, long distances or to carry heavy and numerous packages. (groceries, shopping)
The ataxic person will be more and more spastic, less flexible. His legs will be stiffer. (Ataxia is a neuromuscular disease.)
The existence of these troubles will depend on the afflicted structures (spinal chord, medulla, cerebellum, cerebellar trunk) and the affected tracts (nerves) on the level of the nervous system.
Just like the ataxic youth, the adult ataxic will have to give up certain sports, hobbies, outings, friends, and will have to acquire new interests and goals which will better suit his new state. You can bet that he will discover new talents, new horizons never exploited, and meet new people who will come to enrich him morally and psychologically.
The ataxic person will also have to rethink his state of functioning in life. That which he is able to do physically today will perhaps be no longer possible in a few months. Example : to stand even with support, to hold a utensil, a toothbrush or a glass of water in his hand, to write in a readable fashion, to speak in an understandable manner, to swallow without choking, to manipulate his wheelchair deftly, to keep muscular tone and his energy, to achieve his transfers (from the wheelchair to the sofa and vice-versa) and many others.
The person will have to adjust and readjust constantly to the changes caused by the ataxia. As mentioned at the beginning, ataxia is different from one person to another and from one form to another.