What is Ataxia? |
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Ataxia is a brain disease of the cerebellum. Much like other, better-known diseases of the nervous system such as Parkinson's, Alzheimer's, and
Lou Gehrig's disease, it progressively impacts and then consumes the functions of the affected region of the brain. Ataxia is the broad description of
a perplexing, often fatal condition that robs its victims of their ability to coordinate movement, the critical work of the cerebellum. Walking, talking,
holding objects, eye contact, even swallowing become monumental, and for some, insurmountable tasks.
What causes Ataxia? Most forms of Ataxia are hereditary, meaning that they do (or can) run in families. With some forms, it may only take the genes of one parent to pass along the disease. These are known as Dominant Ataxias. There are other forms of Ataxia that can only be contracted if both of the parents carry the gene for the disease. These are referred to as Recessive Ataxias. All forms of hereditary Ataxias are caused by a defect in a certain gene present at the beginning of a person's life. Everyone has genes that have little mistakes or variations in them. Most variations do not cause disease. Occasionally, however, variations are significant enough to cause disease, including Ataxia. Not all cases of Ataxia are genetically inherited, though. Environmental factors such as over-exposure to certain chemical toxins or head injuries can result in Ataxia also. Furthermore, there are many cases of Ataxia without any known cause. These are known as Sporadic Ataxias. Many people diagnosed with Sporadic Ataxia have been re-diagnosed in the light of modern genetic testing techniques, as new genetic mutations causing Ataxia are discovered and named. What are common symptoms? Symptoms and time of onset vary according to the type of Ataxia, and may also vary from person to person. Recessive disorders commonly cause symptoms to begin in childhood rather than adulthood (although for reasons that are not understood, symptoms are not necessarily present at birth or in infancy). Dominant Ataxias typically begin in the 20’s or 30’s or even later in life. Occasionally, individuals may not show symptoms until they are in their 60’s. Balance and coordination are affected first. What may just seem like "clumsy" movements may not be diagnosed until symptoms become more pronounced, often over a period of years. Coordination affects both arms and legs. Walking becomes difficult. A wheelchair often becomes necessary as the Ataxia progresses. Lack of coordination of the arms and hands affects the person's ability to perform tasks that require fine motor control such as writing and eating. Slow eye movements or limited range of eye movements can be seen in some forms of Ataxia. Does Ataxia affect a person's brain or personality? No. The mental abilities of a person with Ataxia remain completely normal, leaving an active and often very intelligent mind trapped in a disabled body. This is important to remember if you happen to meet an Ataxia patient whose speech is slurred or difficult to understand; the individual may have difficulty communicating but is not in any way impaired mentally. How many people get Ataxia? Ataxia is not as rare as originally thought, but is not as well recognized as neurological conditions with similar symptoms such as multiple sclerosis or muscular dystrophy. An estimated 150,000 people in the United States are affected by hereditary and Sporadic Ataxias. |