First described by German physician Nikolaus Friedreich in 1863, Friedreich’s ataxia (FA) is a rare disease that mainly affects the nervous system and the heart. Its major neurological symptoms include muscle weakness and, of course, ataxia, a loss of balance and coordination.
It doesn’t affect parts of the brain involved in thinking. Its effects on the heart range from mild, non-symptomatic abnormalities to life-threatening problems in the heart’s musculature. FA isn’t caused by anything a person does, and it’s not contagious. It’s a hereditary disease, caused by a defective gene that can be passed down through a family from one generation to the next.
Worldwide, FA affects about one in 50,000 people, making it the most common in a group of related disorders called hereditary ataxias. It shouldn’t be confused with spinocerebellar ataxia, which refers to several other distinct types of hereditary ataxia. There’s no cure for FA, but there are treatments for its cardiac symptoms and ways to manage ataxia and muscle weakness. Thanks to these treatments and the fact that FA doesn’t affect mental functions, many people with FA lead active, rewarding lives.
They go to college, hold careers, get married and start families. Scientists are making rapid progress toward better treatments for FA. In clinical trials, certain drugs have shown great promise for slowing and even reversing the fundamental cardiac abnormalities in the disease. There’s hope that the same drugs also might stave off FA’s attack on the nervous system.
