What is Friedreich Ataxia?
Friedreich Ataxia is a slow, progressive disorder of the nervous system and muscles, which results in an inability to coordinate voluntary muscle movements (ataxia). The onset of symptoms is gradual and progressive – affecting the person’s coordination, mobility, speech, and heart function. Onset of symptoms occurs between 5-15 years of age, however can appear as early as 18 months or as late as 40 years of age. It is a rare condition, with one in 50,000 affected and females and males equally.
The cause of FA is an altered gene- found on chromosome 9, affecting the production of a protein called frataxin needed by the mitochondria. The reduction in the amount of frataxin affects muscle and nerve cells resulting in cell damage and cell death. Gradual loss of function occurs as a result of this damage. FA reduces life expectancy; however some people with less severe symptoms live through to their sixties or seventies.
Signs and Symptoms of FA usually become noticeable during the early teenage years though can vary. The first symptoms are usually difficulty with balance and impaired coordination (ataxia) in the and arms and legs. As time goes , on other symptoms occur such as-
fatigue – energy deprivation and muscle loss
slurred speech and hearing loss.
aggressive scoliosis (curvature of the spine)
pes cavus (high arches in the feet)
diabetes mellitus (insulin – dependent, in 20% of people with FA)
serious heart conditions, including hypertrophic cardiomyopathy and arrthymias
Progressive loss of coordination (ataxia) in arms and legs.
How does a person get FA?
Up to 1 in 90 people in New Zealand are carriers of the gene and when both parents are carriers (and show no symptoms of the condition) there is a 1 in 4 chance of having a child with FA as the altered gene is recessive. This means there can be more than one child in a family with FA though there may be no family history of the condition. Symptoms commonly occur between the ages of 5-15 years however late onset FA can occur anytime during adulthood.
FRIEDREICH ATAXIA CLINICAL MANAGEMENT GUIDELINES
These guidelines are a giant step forward in documenting diagnosis, treatment and management of FA. Committed international physicians and researchers have critically evaluated medical literature, outcomes research and clinical practice for treating symptoms of FA, and have come together to prepare the first comprehensive Consensus Clinical Management Guidelines.
The guidelines are designed to cover nearly all symptoms and issues that can be relevant to Friedreich ataxia, therefore, not all chapters will be applicable every person. We envision healthcare professionals and individuals with FA utilising selected chapters as needed. Please read the User's Guide first for instruction on how best to utilise the full guidelines.