Behind the Mystery: Friedreich’s Ataxia
September 21, 2020
A progressive and debilitating neurological disorder that causes difficulty walking, clumsiness, and impaired speech.
Friedreich’s Ataxia (FA) is a progressive and debilitating neurological disorder. FA is the most common inherited ataxia and is caused by a mutation on both copies of the FXN gene which makes frataxin protein, which is needed for proper function of the brain, nervous system, and heart.
While the early symptoms are generic: clumsiness, unexplained stumbles and falls, and not running as fast as others, it’s when symptoms persist that an exam with a pediatric neurologist is recommended.
Friedreich Ataxia Repeat Expansion Analysis Test detects the GAA triplet repeats in the FXN gene that is characteristic of FA. With neurological problems that are expected to be progressive, early diagnosis, especially an early genetic diagnosis, you can begin to set out a health maintenance plan. We’ll sit down with neurologist Dr. Susan Perlman of UCLA Medical Center and her patient Frankie Perazzola, whose diagnosis changed the course of her life.
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