What is Friedreich's Ataxia?
Friedreich's ataxia is a rare, inherited autosomal recessive disorder caused by a genetic defect in the gene called the FXN or Frataxin gene. The condition is named after Nicholaus Friedreich who first described the condition in the 1860's. Ataxia is typically defined as impaired and uncoordinated muscle movement resulting in gait imbalance.
FA is a condition which tends to develop in children and teenagers although it can develop in any age. The disease progression leads to damages to the spinal cord, peripheral nerves and the cerebellum (the part of the brain associated with coordination and balance).
Symptoms present often in early ages between 5 and 15 years, but can develop later in life. Due to the nerve damage and other organ involvement, symptoms such as hearing loss, trouble walking, vision loss, heart palpitations, slow or slurred speech, loss of reflexes may occur.
Read more on the Clinical Management Guidelines for FA.
Read more on the international work and progress on FA from our partners the Friedreich's Ataxia Research Alliance (FARA).
FA Task Force
Dr. Arsho Rad
CHAIRMAN
Arsho Rad, MD., MSc., is the founder and current chairman of the Ataxia Foundation in Scandinavia and is supervising the project "Friedreich's Ataxia Task Force".
Dr. Thomas Seijersen
ASSOCIATE EXPERT
Thomas Sejersen, MD. PhD., is a renowed Professor in neuropediatrics, with a primary interest into neuromuscular diseases at Karolinska Institute, in Sweden.
Dr. David Lynch
ASSOCIATE EXPERT
David R. Lynch, MD. PhD., is a world renowned expert focused on the rare disease Friedreich's ataxia and is a Professor of Neurology, and is an Attending Physician at the Children's Hospital of Philadelphia.
Dr. Louise Corben
ASSOCIATE EXPERT
Louise Corben, MD, PhD., is Associate Professor, Research Fellow at Genetic Health Research (Bruce Lefroy Centre) group and at the Murdoch Children's Research Institute (MCRI).
Dr. Mark Payne
ASSOCIATE EXPERT
Mark R. Payne, MD. FAAP, FACC. Professor of Pediatrics (Cardiology) Riley Hospital for Children Wells Center for Pediatric Research Indiana University School of Medicine