Friedreich’s Ataxia (FA) is a genetic disease, caused by an expanded GAA trinucleotide repeat in the FXN gene, which affects the nervous system and muscles. Individuals with an increased number of GAA repeats in the FXN gene develop FA earlier and more severely than those with a lower number of repeats. Symptoms of Friedreich’s ataxia usually begin between ages, 5 and 15. Individuals with a low number of repeats (less than 300) tend to have a late-onset disease (after age 25). In rare cases, disease onset can be as late as age 75.
Although the rate of progression varies, an individual with FA needs a wheelchair within 10 to 20 years after the appearance of symptoms. In the later stages of the disease, individuals may become completely debilitated.
FA can shorten life expectancy with heart disease being the most common cause of death. However, some people with a less severe disease may live into their sixties, seventies, or even older.
Although the mental capabilities of people with FA remain completely intact, progressive loss of coordination and muscle strength leads to motor disability and the need to use a wheelchair. Most young FA patients (teens or those in their early 20s) require mobility aids such as a cane, walker, or wheelchair.
FA affects many organs and thus, produces a range of symptoms.
These include loss of coordination or ataxia in the arms and legs that involve clumsy and shaking movements. Gait ataxia or difficulty walking is usually the first symptom to appear. This gradually worsens and spreads to the arms and the trunk. Other symptoms may include difficulty balancing, paralysis of the leg muscles, difficulty moving the arms, and loss of sensation (especially vibrations and position sense) in the limbs. Other features include loss of reflexes in the knees and ankles.
Skeletal deformities are triggered by neuromuscular problems. They include aggressive scoliosis (curvature of the spine to one side), high-arched feet (pes cavus), club feet, deformities of the toes, and foot inversions (feet turning inward). Scoliosis often requires surgical intervention.
Neurological problems associated with FA include difficulty speaking or slurred speech called dysarthria. It involves slow, jerky, and hesitant speech patterns, which gets progressively worse. Other problems include rapid, involuntary, jerky movements of the eyeballs (nystagmus), reduced vision, and hearing loss.
In 75 percent of people with FA, heart abnormalities develop. Various forms of heart disease that accompany FA, include hypertrophic cardiomyopathy (enlargement and weakening of the heart muscle), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and heart failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common.
These heart problems lead to symptoms such as extreme fatigue, chest pain, shortness of breath (especially with exertion), and abnormally rapid or irregular heartbeat (heart palpitations). Symptoms of heart failure include leg swelling and difficulty breathing while lying flat.
About 20 percent of people with FA develop carbohydrate intolerance and 10 percent develop diabetes. Symptoms of diabetes include extreme thirst, frequent urination, weight loss, fatigue, and blurry vision.
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