DOCUMENT

14 | InTouch AUTUMN 2024 Friedreich Ataxia (FA or FRDA) is a slow, progressive disorder of the nervous system and muscles, which results in an inability to co-ordinate voluntary muscle movements (ataxia). Friedreich Ataxia (FA) is a slow, progressive disorder that primarily affects the nervous system and the heart. It was first described in 1863 by the German physician, Nikolaus Friedreich. It is the most common type of hereditary ataxia, which refers to a group of genetic disorders that cause problems with coordination, balance, and speech. FA accounts for approximately 50% of all ataxia cases and affects 1 in 40,000 people worldwide with equal incidence in males and females. Symptoms of FA are caused by a problem with the production of a protein called frataxin, which is important for maintaining cells in areas of the brain, spinal cord, and peripheral nerves that control movement and proprioception. Cells in the heart and pancreas are also adversely affected, which can result in cardiomyopathy and diabetes. FA reduces the normal life expectancy of individuals, usually due to heart disease. However, some people with less severe symptoms of FA often live into their sixties or seventies. Features of Friedreich Ataxia Friedreich Ataxia is characterised by the gradual onset of ataxia in a child or adolescent with previously normal physical development. Symptoms of FA typically appear between the ages of 5 and 15 years but can also begin in adulthood. The first symptoms are difficulty standing and running due to poor balance and incoordination. Other symptoms that can develop Friedreich Ataxia YOUR CONDITION IN REVIEW as FA progresses include hand-eye coordination problems, slurred speech, difficulty swallowing, rapid involuntary eye movements (such as nystagmus), curvature of the spine (scoliosis), and foot deformities. As a result of FA, individuals can also experience gradual loss of sensation in the fingers and toes, diminished tendon reflexes, deafness, impaired visual acuity, and generalized fatigue. The gait of an individual with FA is initially characterised by a wide- based stance with frequent shifting to correct imbalances. Attempts to stop going off balance often result in wild or uncontrolled over-corrective movements. The feet may be lifted higher than necessary and brought down too hard. As FA progresses, incoordination eventually ascends to the arms and trunk. Imbalance may become apparent while sitting and individuals often develop action tremors of the arms and hands. Over time, muscles begin to weaken and waste away, particularly in the feet, lower legs, and hands. As mobility declines, the use of a cane or other walking aids is required. The average time from onset of symptoms to requiring a wheelchair at least part-time is about 10 years, with the majority becoming wheelchair-bound by the age of 45, though progression varies from individual to individual. FA accounts for approximately 50% of all ataxia cases and affects 1 in 40,000 people worldwide with equal incidence in males and females.