Good heath is priceless and there are people who will readily give away their life’s earnings if they could recapture the good health they once enjoyed. Children may not appreciate it at first, but the best legacy we can pass on to them is good health. When you or your child has been diagnosed with a serious disorder it can leave you floundering. There are many different types of spinocerebellar ataxia, each caused by a different genetic mutation, and the rate at which the disease progresses will be determined by the specific gene mutation you have. Sadly, the earlier you are affected with the disease, the quicker it progresses.
Spinocerebellar ataxia diagnosis includes genetic testing as well as neurologic examination. It is important to undergo this testing to find out whether you are at risk of developing the disorder; particularly if you plan on having children.
Anyone can get Diseases of the Nervous System
In America alone, there are thousands of people who are diagnosed with the disorder. Ataxia comes like a thief in the night; it can affect anyone, male or female. Cerebellar ataxia symptoms are characterized by a gradual increase in difficulty with eye movements (ophthalmoplegia) as well as not being able to walk properly. Spinocerebellar ataxia diagnosis is suspected if the person has all the symptoms associated with the disorder. Other spinocerebellar symptoms to watch out for is that speech is also affected.
This physically devastating disorder is mostly inherited in an autosomal dominant fashion which means that if one parent has the disorder, there is a 50% chance that the child will also have the disease. People with spinocerebellar ataxia begin to feel a degeneration of the spinal cord and the cerebellum which is a small fissured mass at the base of the brain. The cerebellum is linked to coordination of movements and it is the degeneration of the cerebellum which causes loss of muscle coordination and problems with balance.
Symptoms and Diagnosis
Nervous system diseases as well as injuries can affect postural control mechanisms, and anyone who has had head trauma or a stroke for instance suffers with balance and coordination problems. Cerebellar ataxia symptoms vary, and in fact there is overlapping between the different forms of the disease, making it difficult to establish spinocerebellar ataxia diagnosis just based on symptoms alone, and in fact cases of adult ataxia, where there is no family history, are very difficult to diagnose.
In most cases the first manifestation of the disease is difficulty with walking. Other signs include speech difficulties and dizziness, and signs that the brain stem is affected will be manifested with swallowing difficulties. This symptom leads to aspiration or when you get food in the lungs, and this can lead to pneumonia.
With the disorders of SCA1, 2 and 3 people can experience numbness or pain in the arms and legs, muscle tensing as well as muscles wasting away. Cerebellar Ataxia symptoms will begin in a young adult but can appear in childhood, and when these symptoms first appear, people can survive for some 10 to 20 years. As the years progress, there will be a need for a wheelchair whereas with SCA11 for instance, progress is much slower.
There is Sadly No Cure but there is Help
The sad reality of Spinocerebellar Ataxia is that there is no way to slow down its progression and also no cure for it either. There are some things however that you can do to relieve the symptoms and help with that body and muscle stiffness. Occupational and physiotherapy can be helpful in showing the person how to perform balance exercises.
With spinocerebellar Ataxia diagnosis it is possible to detect the presence of a faulty gene. All is not lost at a time like this and apart from orthopedic aids, a speech therapist can be of help with speech difficulties as well as swallowing difficulties. The goal of these medical professionals is to work at helping the patient with improving their functional levels through restorative techniques. Treatment is geared towards improving balance and posture in order to improve the quality of life for the patient by helping them to become more independent with their day to day activities.