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

Symptoms typically appear between the ages of 10 and 15, but as many as 20% of cases may present before the age of 5.3

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.

Symptoms typically appear between the ages of 10 and 15, but as many as 20% of cases may present before the age of 5.3

When You See Any Combination of These Symptoms, Think FA FIRST

icon-falls (2)

Falls

(gait ataxia)5

Trouble playing sports, clumsiness

Problems walking on
uneven terrain

icon-imbalance (2)

Imbalance

(poor proprioception)5

Inability to walk straight forward

Dependence on
walking aids

icon-reflex-loss (2)

Reflex loss

(areflexia)5

Loss of deep tendon response in lower limbs

Spasticity in the
lower limbs

icon-sensation-loss (2)

Sensation loss

(sensory neuropathy)5

Inability to sense vibration and joint position

Reduced or absent
sensory action

icon-tiredness (2)

Tiredness

(fatigue)2

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

icon-skelton (2)

Scoliosis may be an initial indicator of FA when you also see imbalance or other neurological signs.3

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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:

  • Earlier disease onset
  • More severe symptoms
  • More rapid progression

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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