Title: Hereditary ataxia. (pamphlet) Citation: Pamphlet by: National Ataxia Foundation, June 20, 1991 p1(6) ------------------------------------------------------------- Subjects: Friedreich's ataxia_Diagnosis Pamphlets, Health Central nervous system_Abnormalities Friedreich's ataxia_Care and treatment Reference #: A11063342 ============================================================= Full Text COPYRIGHT National Ataxia Foundation 1991 Hereditary Ataxia What Is It? The word "ataxia" comes from the Greek word ataxis meaning "without order" or "incoordination." Sometimes the word ataxia is used to describe symptoms associated with infections, inquries or degenerative changes occurring within the central nervous system. However, this brochure will explain the hereditary ataxias, which refers to a special group of inherited spinocerebellar (brain and spinal cord) degenerations. The hereditary ataxias include a broad range of physical changes occurring within the nervous system, making classification difficult at times. As research discovers the basic underlying cause(s) of ataxia, diagnosis of specific types of hereditary ataxia should become more precise. In this brochure the hereditary ataxias are divided into two main groups, those that are recessively inherited and those that are dominantly inherited. Ataxia respects no particular age or race. What Causes It? It is thought that the gene(s) responsible for ataxia cause the body to produce an abnormal protein, which for some unknown reason causes the nerve cells to degenerate, thereby reducing nerve signals to the muscles. The cells affected are primarily in the brain (cerebellum) and spinal cord. As the nerve cells continue to degenerate, muscles become less and less responsive to commands from the brain, causing coordination problems to become more pronounced. How Is It Diagnosed? Diagnosis is based on a person's medical history, family history and a complete neurological evaluation. To supplement the evaluation, various tests may be performed which assist in the diagnosis, and rule out other possible disorders which may present similar symptoms. At this time, ataxia cannot be diagnosed before symptoms appear. Currently, there are no specific blood tests of other tests to indicate ataxia. There is no prenatal test to determine if an unborn child has inherited the ataxia gene. How Is Ataxia Inherited? Dominant Hereditary Ataxia Hereditary ataxia is passed from generation to generation through defective genes. Dominant ataxia is passed on as a dominant hereditary disease. Each child born of a parent with dominant ataxia has a 50-50 chance of getting ataxia. It is passed directly from parent to child. If the child does not develop ataxia, his or her children in turn cannot become afflicted, and future generations are free of the disease. The symptoms usually appear around ages 20 - 40. If a man or woman has the dominant ataxia, each of the children inherits a 50-50 chance of developing ataxia. By chance, all offspring in one family may have ataxia, and all offspring in another family may be free. Recessive Hereditary Ataxia In recessive types like Friedreich ataxia, parents do not exhibit symptoms, but they each carry a recessive gene which may cause ataxia in their offspring. The genetic path of recessive ataxia is impossible to predict. The recessive gene may lie dormant for generations until suddenly two people with the defective gene have children (indicated below by a heavy line). The symptoms usually appear in the first or second decade. Recessive ataxia parents are carriers of the recessive gene but rarely show symptoms. Each of their children has the following genetic odds: a 25% chance of being free, a 50% chance of being a carrier without showing symptoms, and a 25% chance of having the disease. What Are the Symptoms? One of the most common recessive ataxias is Friedreich ataxia, which usually begins in the childhood or teenage years. Dominant ataxia often begins in the twenties or thirties. This is sometimes referred to as Marie or olivopontocerebellar atrophy (OPCA). While it is thought that many of the inherited ataxias have onset early in the life span, there now appears to be good evidence that there are forms of hereditary ataxia which have onset in the age range of 50-65 years. These may be inherited in either a dominant or a recessive pattern depending on family history. 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 and is characterized by walking with feet placed farther apart to compensate for poor balance. A wheelchair may become necessary as the ataxia progresses. Lack of coordination of the arms and hands affects the person's ability to perform tasks which require fine motr control such as writing and eating. Ataxia can, in many instances, affect speech and swallowing. Fear of choking becomes very real when and if the ability to swallow and cough has been affected. Special precautions may need to be taken to prevent the inhaling of fluids and secretions. Most ataxias are progressive but are not always fatal, and do not always result in total disability. Ataxia can shorten the life span due to respiratory complications. In the recessively inherited ataxias, cardiac complications can be involved. Coping with a progressive disorder often causes feelings of depression, anger, frustration and other emotional symptoms. What is Being Done? NAF The National Ataxia Foundation (NAF) was incorporated in Minnesota in 1957 as a non-profit organization with four important goals: service, education, research and prevention. Service The National Ataxia Foundation attempts to locate people and families with hereditary ataxia in order to provide them with information about hereditary ataxia. NAF can direct people to local resources which are designed to help meet needs such as medical diagnostic services, genetic counseling, family planning services, insurance, where to look for homemaker services, day activity centers and nursing homes. NAF also sponsors a diagnostic and evaluation clinic on a monthly basis. NAF does not pay for medical care or costs, and is unable to provide direct financial assistance. Education One of the most crucial elements in the fight against hereditary ataxia is the development of patient and family awareness and the dissemination of accurate information to researchers, physicians and allied health professionals. The National Ataxia Foundation provides educational materials and information to patients, family members and health care professionals. This is done on a "direct request" basis through the NAF office and by periodic mailings, meetings and seminars. Research The National Ataxia Foundation encourages and promotes research on the hereditary ataxias. This is done by NAF granting funds for new and innovative research projects which have the potential of expanding into major, multidisciplinary research programs supported by government or private agencies. Prevention Without a medical cure, the only way to halt the spread of hereditary ataxia is for those who have the disease to voluntarily decide not to have children. For those individuals who have a genetic risk of developing the disease, a decision to delay having children until they have passed the expected age of onset would further stop the spread of hereditary ataxia. Genetic counseling may allow individuals and families to make their life decisions based on accurate knowledge and understanding, rather than on misinformation or half truths. You Can Help! An estimated 150,000 people in the United States are affected by the hereditary ataxias. To help these ataxia patients and their families in your area and throughout the nation, we need your help. The following methods are provided for your consideration: * Outright gifts of cash * Sponsor your own NAF fund raising event (*) * Testamentary trusts * Donations of property * Life insurance * Bequests (*) With NAF approval NAF membership (Annual - $15, Sponsor - $30, Patron - $100, Lifetime - $500) entitles you to all publications and information on hereditary ataxia. Note: In making gifts to the NAF, there are special considerations that should be carefully taken in order to avoid losing any tax deduction or the full use of your funds. Your attorney or accountant can best tell you how to maximize your charitable contributions. For more information please contact: National Ataxia Foundation 750 Twelve Oaks Center 15500 Wayzata Blvd Wayzata, MN 55391 Ph: (612) 473-7666 Fax: (612) 473-9289 Prodigy: NBXU87A@prodigy.com Internet: naf@mr.net