What is Friedreich Ataxia?
Friedreich Ataxia (FA) is a progressive neurodegenerative disorder that affects the nervous system and muscles. It is caused by a mutation in the frataxin gene, leading to a deficiency in this essential protein. This deficiency impacts the mitochondria, the energy-producing parts of cells, resulting in cell damage and death.
The primary symptom of FA is ataxia, which is the inability to coordinate voluntary muscle movements. This can lead to difficulty walking, talking, and performing other daily activities. As the condition progresses, individuals may also experience:
Fatigue and muscle weakness
Slurred speech and hearing loss
Scoliosis (curvature of the spine)
Pes cavus (high arches in the feet)
Diabetes mellitus
Heart problems, such as hypertrophic cardiomyopathy and arrhythmias
FA typically begins in childhood or adolescence, but can onset at any age. While there is currently no cure for FA, treatments can help manage symptoms and improve quality of life.
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.