Friedreich’s ataxia (FA) is an autosomal-recessive neurodegenerative disease that primarily affects the nervous system1
FA is a rare disease that also has multisystem effects, including cardiomyopathy. People with FA develop impaired muscle coordination that gets worse over time. Though FA is rare, it is the most common inherited ataxia.1
1/30,000 to 1/50,000 have the disease
1 in 85 Caucasians are carriers
Most patients experience symptoms around puberty (10 to 15 years of age)
There are many clinical features of FA, but the main features that differentiate FA from other types of ataxias include:
Gait and limb ataxia
Loss of lower limb reflexes
Likely cardiac involvement and increased risk for diabetes
Slowed or slurred speech
Distal weakness in the hands and feet
If you suspect that your patient may have FA, order the Friedreich Ataxia Repeat Expansion Analysis panel test, which will detect the GAA triplet repeats in the FXN gene that is characteristic of FA.4,5
Because of the serious consequences of the disease, patients should be diagnosed as early as possible. An early diagnosis can help to optimally manage the symptoms of FA, and allow for the building of a multidisciplinary care team tailored to a patient’s individual needs.1
Identifying Friedreich’s ataxia as early as possible can help determine appropriate symptom management for optimal results.1
Here is a way to help differentiate FA from other types of ataxia:3
Note: The FA SCAN collectively represents manifestations of FA and is suggestive of an FA diagnosis. Typical age of onset of symptoms varies.3
Often, FA is diagnosed many years after the first symptoms appear. An earlier diagnosis would allow patients with FA to get the support they need from a multidisciplinary team. The hope is that managing patients’ symptoms earlier would allow patients with FA to maintain their independence longer.1
References: 1. Schulz JB, Boesch S, Burk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol. 2009;5(4):222-234. 2. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007;6(3):245-257. 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. Wallace SE, Bird TD. Molecular genetic testing for hereditary ataxia: what every neurologist should know. Neurol Clin Prac. 2018;8(1):27-32. 5. Comprehensive genetic test menu. Quest Diagnostics website. http://www.questdiagnostics.com/dms/Documents/Healthplan-Disease-Awareness/Newsletters/Quest_Genetics_Test_List/Quest_Genetics_Test_List.pdf. Published 2014. Accessed December 4, 2019.
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