is Friedreidrich's Ataxia?
What are the major symptoms of FA?
What other symptoms might occur?
How is FA passed on the family?
What should somebody with FA do?
National Ataxia Foundation
What is Friedreich's ataxia?
Friedrich's ataxia (FA) is a very rare neurological genetic disorder, that affects speech, balance and coordination. In some respects it is similar to multiple sclerosis. It is an inherited genetic disease in which a person is born with. Most people who have Friedreich's Ataxia, eventually need support to walk, like a scooter, walker or wheelchair. Although, not deemed terminal, it is progressive and as a result, complications can occur to the respiratory systems, (heart and lungs ect.) Friedreich's ataxia was the first form of hereditary ataxia to be distinguished from other forms of ataxia. It is named after the German doctor, Nikolaus Friedreich, who first described it in 1863. Presently there is no known cure, but please don't fret or become discouraged, because with the advancement of all the recent genetic discoveries and research, there is great deal of hope indeed!
What are the major symptoms of Friedreich's ataxia?
The symptoms of Friedreich's ataxia usually become noticeable during the early teenage years, although in occasional individuals the diagnosis has been made as early as age 2 or as late as age 25. The first symptoms are usually difficulty with balance (dysequilibrium), impaired coordination of the legs or arms (ataxia), and thick or slurred speech (dysarthria).
As time goes on, individuals with Friedreich's ataxia often notice worsening of their coordination and speech, difficulty knowing where their feet or hands are in space (impaired position sense), and weakness and loss of muscle bulk in the legs and hands. Curvature of the spine (kyphoscoliosis) and high arches in the feet (pes cavus) develop, and may require treatment. Enlargement of the heart, irregular heartbeat, or other symptoms of heart trouble (cardiomyopathy) occur in most individuals with Friedreich's ataxia; the heart trouble may be very mild, but in most cases it can be severe.
About 10% of people with Friedreich's ataxia have hearing loss. A similar percent develop loss of visual acuity or changes in color vision. Most have jerky eye movements (nystagmus), but these movements by themselves do not usually interfere with vision. About 50% of people develop trouble controlling their urge to urinate (urinary urgency), or incontinence. A significant percentage of people with Friedreich's develop diabetes mellitus, and some patients develop hypothyroidism.
How is Friedreich's ataxia passed on in the family?
Friedreich's ataxia is an inherited, or genetic, disorder. That means that it is caused by an abnormality of a single gene. To understand how the disease is passed on, it is important to know about genes and cells. Each gene is like a blueprint that tells the cell how to make a certain chemical or protein (like heart muscle proteins, or neurotransmitter, or eye color pigments). It is estimated that humans have about 100,000 genes inside each of their body cells; not all genes are active in all the cells (for instance, a gene for heart muscle protein doesn't need to be active in a brain cell). Each egg cell that a woman makes contains one copy of each of the 100,000 genes, and one copy of each of the father's genes is contained in his sperm cell, so that when a new person arises from the joining of an egg and a sperm cell, the new person has two copies of each gene (one from his father, and one from his mother).
All people have genes that do not work properly (think of them as blueprints with a window or a door missing). In the case of Friedreich's ataxia, and a number of other hereditary diseases, symptoms do not appear unless a person has a double dose of an altered, or nonfunctioning, Friedreich's gene. People who have one copy of an altered "Friedreich's gene" are called "carriers" of Friedreich's ataxia and can pass their altered gene on to their children, but these carriers do not have any symptoms of Friedreich's ataxia. That is because the second copy of the Friedreich's gene is still working, and that is enough to prevent any symptoms from occurring. It is only people who get a "double dose" of the altered gene, so that neither copy of their "Friedreich's genes" works properly, who develop symptoms that are recognized as Friedreich's ataxia.
This genetic pattern is called "autosomal recessive inheritance", which means that 1) the disease is hereditary, 2) a double dose of the altered or nonfunctioning gene is required to cause symptoms, 3) the disease can strike males and females with equal likelihood, and 4) that it is possible to "carry" the altered gene without having symptoms of the disease.
In the United States, it has been estimated that 1 out of every 100 people is a carrier of the (altered) Friedreich's gene. In some regions or ethnic groups, this number may be a little higher or lower, but if you look around you at a busy airport or football game, there are probably several people there who are carriers AND DON'T KNOW IT. Most of the time, the development of Friedreich's in a child comes as a complete surprise to their parents, who had no way of knowing that they were carriers of the Friedreich's gene.
A number of things are very important for a person with Friedreich's and his or her family to do. Most importantly, they should have a thorough evaluation by a physician or neurologist who is sensitive to all the possible complications of Friedreich's. An individual with Friedreich's may need a neurologic examination and tests (which may include evaluation of the cerebellum and spine cord with CT (computerized tomography) or MRI (magnetic resonance imaging), studies of the peripheral nerves with EMG (electromyography), and other studies to rule out other conditions; an ophthalmologic (eye) exam, an audiologic (hearing) test, evaluation and treatment by an orthopedist (bone doctor), an EKG (electrocardiogram), and perhaps evaluation by an endocrinologist (diabetes, thyroid doctor). Evaluation or treatment by a speech pathologist, physical or occupational therapist, and urologist may become necessary as the disease progresses.
Patients and families with Friedreich's ataxia should undergo genetic counseling. Family members usually have many questions about the chances that other children might get or have the disease, or be carriers of the disease gene. These questions, as well as questions about the rapidly evolving technology for genetic testing for Friedreich's can be answered by a genetic counselor.
A family with Friedreich's should become knowledgeable about Friedreich's. Many physicians are unaware of all the medical and social aspects of Friedreich's, and the family can help health professionals, friends, and relatives by learning about the disease. The National Ataxia Foundation, who has a series of informational brochures, quarterly newsletter, and an updated annual list of published research articles. Learn from other individuals and families who have ataxia through an established computer bulletin board, join one of NAF's chapters or support groups and or the "Pen-Pals". You and your doctor might want to read recently (1992-1993) published books (written for the physician) on ataxia: