10 Facts of Freidreichs Ataxia

1. Friedreichs Ataxia is a genetic and progressive disorder of the central nervous system
2. The general symptoms are clumsiness, difficulties with balance, lack of co-ordination and, in time, a slurring of speech and may experience one or more of the following symptoms: hypertrophic cardiomyopathy (thickening of the heart wall that causes weakening of the heart) • scoliosis (curvature of the spine) • pes cavus (excessively arched foot) • diabetes or impaired glucose tolerance • nystagmus (rapid involuntary movements of eyes) • swallowing difficulties • reduced vision • reduced hearing • cold feet due to decline in muscle activity
3. No new born children are born affected by Ataxia, Onset happens between 6 and 16
4. Usually manifests itself in children between the ages of six and sixteen years
5. Because of the genetic factor more than one person in a family may be affected, parents are unaware that their new born has a problem (I call a Genetic Time bomb), parents could potentially have a large family before the first child with Ataxia develops symptoms or (Onset) followed by some or all siblings
6. Genetic Ataxias are inherited. There are mainly two forms of inherited Ataxias. These are known as Recessive and Dominant
7. 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.
8. 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 occurs in later life. There are several other Ataxia’s, such a Cerebellar Ataxia which usually occur in adult life but the symptoms are very like those for the other Ataxia’s.
9. Although FA is the most common of the inherited ataxias, it is still rare, affecting about 1-2 people in 50,000 in Ireland
10. 1 in 90 people in Ireland are carriers of the FA Gene
10 Facts about ATAXIA
1. Friedreichs Ataxia is a genetic and progressive disorder of the central nervous system
2. The general symptoms are clumsiness, difficulties with balance, lack of co-ordination and, in time, a slurring of speech and may experience one or more of the following symptoms: hypertrophic cardiomyopathy (thickening of the heart wall that causes weakening of the heart) • scoliosis (curvature of the spine) • pes cavus (excessively arched foot) • diabetes or impaired glucose tolerance • nystagmus (rapid involuntary movements of eyes) • swallowing difficulties • reduced vision • reduced hearing • cold feet due to decline in muscle activity
3. No new born children are born affected by Ataxia, Onset happens between 6 and 16
4. Usually manifests itself in children between the ages of six and sixteen years
5. Because of the genetic factor more than one person in a family may be affected, parents are unaware that their new born has a problem (I call a Genetic Time bomb), parents could potentially have a large family before the first child with Ataxia develops symptoms or (Onset) followed by some or all siblings
6. Genetic Ataxias are inherited. There are mainly two forms of inherited Ataxias. These are known as Recessive and Dominant
7. 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.
8. 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 occurs in later life. There are several other Ataxia’s, such a Cerebellar Ataxia which usually occur in adult life but the symptoms are very like those for the other Ataxia’s.
9. Although FA is the most common of the inherited ataxias, it is still rare, affecting about 1-2 people in 50,000 in Ireland
10. 1 in 90 people in Ireland are carriers of the FA Gene