CHECK-UP:What is Friedreichs ataxia?
CAN YOU explain what Friedreichs ataxia is? A friend has told me her young brother has just been diagnosed with it and I'd like to know a bit more about the condition.
Ataxia is the medical name given to a disorder of co-ordination, of which there are several forms. Friedreichs ataxia is a rare genetic disorder of the central nervous system. The symptoms usually become apparent in children between the ages of six and 16 but can manifest at a later age in some sufferers. The condition is progressive with symptoms varying from one person to another.
The most common symptoms include difficulty with balance, poor co-ordination, general clumsiness and, later on, slurring of the speech. The condition stems from a genetic problem in one or both parents.
If it's a genetic problem, how come other members of the family aren't affected?
Ataxias caused by a genetic problem can be roughly divided into two main forms; dominant ataxia and recessive ataxia. In the dominant form, a faulty gene is carried by one parent while the other parent passes on a normal version of the gene to their child.
In this situation the child has a 50 per cent chance of developing ataxia, but also has a 50 per cent chance of inheriting the normal gene and will, therefore, neither suffer from the condition nor pass it on to their own children.
In dominant ataxia, symptoms tend to develop later in life. Recessive ataxia can occur when both the mother and father carry the defective gene. In this instance there is a one in four chance that their child will inherit the defective version of the gene from both parents. Symptoms tend to develop in childhood, which may be the first indication either parent has the faulty gene.
Can it be cured and if not what sort of treatment can you get for it?
Although there is as yet no cure for Friedreichs ataxia, a neurologist will be the first port of call to confirm the diagnosis and review symptoms over time. Rehabilitation and supportive therapy in the form of physiotherapy, occupational therapy, speech therapy and counselling are important elements in the management of the condition to maintain optimum levels of functioning and independence.
• The Friedreichs Ataxia Society provides support to sufferers and their families and can be contacted 01 2894788 or www.ataxia.ie for further information
Friedreichs Ataxia
Friedreichs Ataxia is a rare, genetic disorder of the central nervous system. Symptoms, which vary from one person to another, usually become apparent in children between the ages of 6 and 16 but can manifest at a later age in some sufferers.
The most common symptoms include difficulty with balance, poor co-ordination, clumsiness and slurring of speech.