Identifying Early Signs of Friedreich’s Ataxia Can Help Speed Time to an Accurate Diagnosis
Early symptoms of Friedreich’s ataxia (FA), such as feeling exhausted or poor proprioception, can be vague and overlap with other diseases. There is also limited awareness of FA because the disease is rare. For these reasons, FA may go undiagnosed for years.1,2
However, FA is the most common inherited ataxia,2,4 making it essential to keep in mind when interpreting symptoms and determining if a genetic test is warranted to confirm diagnosis.
When You See Any Combination of These Symptoms, Think FA FIRST
Trouble playing sports, clumsiness
Problems walking on
Inability to walk straight forward
Loss of deep tendon response in lower limbs
Spasticity in the
Inability to sense vibration and joint position
Reduced or absent
Exhaustion after routine or extended physical activity
Muscle weakness in the
pelvis and lower extremities
In Rare Cases, Non-neurological Signs Can First Signal FA
Scoliosis may be an initial indicator of FA when you also see imbalance or other neurological signs.3
Cardiomyopathy may be more common at presentation among younger patients with more severe early-onset FA.3
A Diagnosis of FA Can Only Be Confirmed With a Genetic Test That Includes a Friedreich’s Ataxia Repeat Expansion Analysis6
FA is caused by a variant within the frataxin gene (FXN) called a GAA triplet-repeat expansion. Nearly all cases—96%—are caused by this variant, while about 4% are attributable to point mutations.6
A greater number of GAA triplet repeats typically means3:
Ordering the Right Test Is Critical
Standard multigene panels that include only a sequence analysis cannot detect the pathogenic repeat expansion variants. Request a genetic test that includes a repeat expansion analysis of FXN, the genetic cause of about 96% of FA cases.6,7
Get the FActs About the Multidisciplinary
Care That Begins After Diagnosis
After confirming a diagnosis of FA with a genetic test, you can begin to build a multidisciplinary disease management team for your patients.
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References: 1. Indelicato E, Nachbauer W, Eigentler A, et al. Onset features and time to diagnosis in Friedreich’s Ataxia. Orphanet J Rare Dis. 2020;15(1):198. 2. National Institute of Neurological Disorders and Stroke. Friedreich Ataxia Fact Sheet. November 15, 2021. Accessed March 16, 2022. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Friedreichs-Ataxia-Fact-Sheet. 3. Parkinson MH, Boesch S, Nachbauer W, Mariotti C, Giunti P. Clinical features of Friedreich’s ataxia: classical and atypical phenotypes. J Neurochem. 2013;126(suppl 1):103-117. 4. Schulz JB, Boesch S, Bürk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009;5(4):222-234. 5. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007;6(3):245-257. 6. Galea CA, Huq A, Lockhart PJ, et al. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. Ann Neurol. 2016;79(3):485-495. 7. Wallace SE, Bird TD. Molecular genetic testing for hereditary ataxia: what every neurologist should know. Neurol Clin Pract. 2018;8(1):27-32.
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