What is Freidreichs Ataxia
Friedreichs Ataxia is a genetic and progressive disorder of the central nervous system which usually manifests itself in children between the ages of six and sixteen years. However, in some instances the onset for Friedreichs and other Genetic Ataxia’s can be much later. Because of the genetic factor more than one person in a family may be affected. The general symptoms are clumsiness, difficulties with balance, lack of co-ordination and, in time, a slurring of speech. Although there is no specific treatment for any of the known Ataxia’s, fundamental research into its pathogenesis is ongoing worldwide, and there are, in any case, various ways in which the burden on sufferers and their relatives can be lightened. In recent years the defective genes which cause several of the Genetic Ataxia’s have been identified and, therefore, clinical tests can be undertaken to identify the particular Ataxia and/or to establish if other siblings are carriers of the defective gene. Information and help in this regard can be obtained by contacting the Ataxia Foundation Ireland.
What causes Friedreichs Ataxia and other genetic Ataxias?
Genetic Ataxias are inherited. There are mainly two forms of inherited Ataxias. These are known as Recessive and Dominant.
Recessive Ataxia usually has an onset in childhood. Though there may be no family history of such a disorder, it will occur if both parents are carriers of the defective gene. Usually the parents will be totally unaware of this fact until one of their children shows signs of balance and co-ordination problems – usually after the age of six years. Each parent has two copies of every gene and for those with one defective gene each there is a one in four chance, with every pregnancy, that the child will inherit the defective gene from each parent. In such cases the child will develop a Genetic Ataxia.
If you have a relative who has been diagnosed with an ataxia and would like to be tested to see if you are a carrier, a referral letter would need to be sent by your GP to:
Professor Andrew Green
National Centre for Medical Genetics
Our Lady’s Hospital for Sick Children
Dominant Ataxia occurs when a faulty gene, in one parent only, causes the abnormality. In this instance the normal gene does not compensate for the abnormality. There is a 50% chance that the child will inherit the abnormal gene from the parent and thus develop the Ataxia. There is also a 50% chance the child will inherit the good gene and therefore, will not be affected and will not pass the bad gene on to the next generation. Usually the onset of Dominant Ataxia’s occur in later life. There are several other Ataxia’s, such a Cerebellar Ataxia which usually occur in adult life but the symptoms are very similar to those for the other Ataxia’s.
Ataxia Foundation Ireland a company Limited by Guarantee (CLG) Company Registration: 588973 Registered Charity Number (RCN) 20153540
Copyright (c) 2017 all rights reserved