Friedreich’s Ataxia (FA or FDRA) is one of the 43 neuromuscular diseases supported by the Muscular Dystrophy Association (MDA). Friedreich’s Ataxia is a slowly progressive genetic disorder of the nervous system and muscles. Mild symptoms generally first appear any time between the ages of 5 and 15. The disorder (a special type of spinocerebellar ataxia) causes an inability to coordinate voluntary muscles movements.
Friedreich’s Ataxia symptoms result from degeneration of nerve tissue in portions of the cerebellum, the spinal cord and of the nerves that extend to peripheral areas such as the arms and legs. Some conditions associated with Friedreich’s Ataxia do not result from degeneration of the nerves. Primary effects include muscle weakness, loss of coordination, excessive fatigue (severely reduced energy), speech changes and voice weakness, scoliosis, diabetes and cardiomyopathy. Heart disease, sometimes in severe forms, is one of the more common and life-threatening conditions, along with the side-effects of uncontrolled diabetes. Abnormalities in heartbeat rhythm and diminished strength of the heart muscle have been seen in a large percentage of Friedreich’s Ataxia patients. Palpitations and shortness of breath are the most common symptoms. Some patients exhibit hypertrophic cardiomyopathy (abnormal enlargement of the heart muscle).
Although considered rare, FA is the most prevalent inherited ataxia. It affects about 1 in every 50,000 people in the USA. Some estimates have placed the prevalence of the disorder worldwide at between 30,000 and 250,000 persons. Never-the-less, 1 in every 100 people carry a gene-type that is thought to be the primary cause of FA, when two such genes are inhereited. In this case, the normal production of frataxin is severely diminished causing the disease to appear to progress over time. Most persons diagnosed with Friedreich’s Ataxia require mobility aids such as a cane, walker, or wheelchair by their teens or early 20s; but, some patients have later onset of FA. Most doctors will never see a person with this problem or will not correctly diagnose it. Special genetic testing will confirm the disease. An experienced neurologist and specialists for symptomatic problems like heart disease or diabetes will prove necessary for regular monitoring and for treatment over time.
Our family member gets very tired, and when that happens, balance gets worse. Often it is a fall caused by a loss of balance or something like the flu, putting one in bed for several days, that may be the turning-point at which one can no longer walk. Ataxia in general or FA specifically might be a good topic for a book for parents and new patients, caregivers, etc.
The National Center for Biotechnology Information under the National Institutes of Health (NIH) describes Friedreich's ataxia as a rare inherited disease characterized by the progressive loss of voluntary muscular coordination (ataxia) together with heart enlargement. Named after the German doctor, Nikolaus Friedreich, who first described the disease in 1863, FA is generally diagnosed in childhood. It affects both males and females. Technically, FA is an autosomal recessive genetic disease caused by a mutation of a gene associated with the production of frataxin (a nuclear-encoded mitochondrial protein). This gene is located on chromosome 9. The mutation results when there are many extra copies of a DNA segment, the trinucleotide GAA. A normal individual has 8 to 30 copies of this trinucleotide, while FA patients have as many as 1000. Generally speaking, the larger the number of GAA copies, the earlier the onset of the disease and the more rapid the decline of the patient.
L'ataxie de Friedreich est une maladie neurologique, évolutive, rare et d'origine génétique. Elle a été décrite pour la première fois par le neurologue allemand Nicolas Friedreich. Il joue un grand rôle dans la régulation de l'adaptation des postures et des mouvements volontaires -- le syndrome cérébelleux est associe donc des troubles statiques, des troubles de l'exécution du mouvement et des troubles du tonus. http://www.ataxie.com/index.php?page=3 L’ataxie est un symptôme et non pas une maladie spécifique. Le terme « ataxie » désigne des troubles de la coordination. Les ataxies héréditaires sont des maladies neurologiques, génétiques et dégénératives du système nerveux central (SNC) caractérisées par la dégénérescence du cervelet ou des zones anatomiques, incluant les différents nerfs y qui sont rattachés. http://www.lacaf.org/index.php?option=com_content&task=view&id=42&Itemid=77; FEDAES (Federacion Española de Ataxia)