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Friedreich's ataxia typically begins between the ages of 5-15 with progressive difficulty walking and loss of coordination. The condition, caused by mutations in the FXN gene, affects approximately 1 in 40,000 people and is the most common inherited ataxia. Variants in the FXN gene disrupt the production of frataxin, a protein essential for mitochondrial function. Without enough frataxin, nerve cells and the heart gradually lose function, leading to progressive movement difficulties and other complications. This disorder typically appears in childhood or adolescence, though symptoms and progression vary.
FA presents a variety of symptoms, which can vary widely among individuals. Most people experience symptoms between 5-15 years old, but a portion of individuals (~25%) show signs until adulthood. Clumsiness or incoordination is often the first noticeable sign. Common symptoms include:
Genetic testing is the most effective method for diagnosing FA. Due to the type of variant in the FXN gene, specialized genetic testing is needed to identify the GAA repeat expansion variant.
If you or a loved one is experiencing symptoms associated with FA, Probably Genetic offers no-cost genetic testing and genetic counseling to patients with confirmed eligibility.
To be eligible, patients must be experiencing FA symptoms and not have already received a genetic diagnosis. Probably Genetic is dedicated to offering as many tests as possible and commits to re-reviewing previously waitlisted applications as our testing capacity grows.
Due to the overlap of symptoms with other conditions, FA can often be misdiagnosed. Common misdiagnoses include:
There is no cure currently available for those with Friedreich's Ataxia; however, there are treatments at various stages of development:
As research continues, clinical trials and new therapies are being developed, providing hope for better management and treatment options in the future.
In February 2023, the FDA approved Skyclarys (omaveloxolone) as the first treatment specifically for Friedreich's ataxia. This milestone marked the first time patients with FA had access to a medication that can slow disease progression.
How Skyclarys Works Skyclarys activates the Nrf2 pathway, which helps protect nerve cells from oxidative stress and inflammation. In the 48-week MOXIe clinical trial, patients taking Skyclarys showed significantly less physical impairment over time compared to those receiving placebo, as measured by the modified Friedreich's Ataxia Rating Scale (mFARS).
- Approved for patients 16 years and older
- Taken once daily as an oral capsule (150mg)
- Available through specialty pharmacies
- Requires prescription from a healthcare provider experienced in treating ataxias
Side Effects: The most common side effects include elevated liver enzymes, headache, nausea, abdominal pain, and fatigue. Regular monitoring by a healthcare provider is important. Patients interested in Skyclarys should discuss the treatment with their neurologist or contact FARA (Friedreich's Ataxia Research Alliance) for resources on accessing the medication and navigating insurance coverage.
The progression of Friedreich's ataxia varies significantly between individuals. Historically, the average life expectancy for people with FA has been approximately 37 years, though with advances in cardiac care and symptom management, many individuals now live longer.
Heart disease remains the leading cause of death in FA, making regular cardiac monitoring and treatment essential. Individuals with late-onset FA (symptoms beginning after age 25) typically experience slower disease progression and longer life expectancy.
With comprehensive multidisciplinary care, including cardiac management, physical therapy, and emerging treatments like Skyclarys, many people with FA are living longer, more active lives than previous generations.
Effective management of FA involves a combination of medical care, supportive therapies, and a strong support network. Diagnosis is a critical step in managing the condition more effectively, and resources are available to help patients and families navigate this journey.
Probably Genetic offers a no-cost genetic testing program for individuals suspected of having FA. The process to apply is straightforward:
1. Begin the Online Symptom Assessment: Describe the symptoms you or a loved one is experiencing.
2. Complete Your Profile: Provide additional necessary information, including your address for the sample collection kit.
3. See if You Qualify: You’ll be notified via email regarding your eligibility.
Connecting with others who understand your experiences is crucial. The Friedreich’s Ataxia Research Alliance offers resources and community support to help families manage the challenges of FA disorder.
By leveraging these resources, patients and families can gain better insights into managing FA disorder and connecting with others who share similar experiences. Whether you're seeking information, community support, or considering genetic testing, these resources can help you navigate the journey with FA.
Over 100,000 patients have created a profile with Probably Genetic to confirm their eligibility for our free genetic testing and counseling programs.
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