Though rare, FA is the most common inherited ataxia.

Prevalence2

Friedreich’s ataxia (FA) is an autosomal-recessive, neurodegenerative disease that primarily affects the nervous system but can have multisystemic effects, including cardiomyopathy. People with this condition develop impaired muscle coordination (ataxia) that worsens over time.

1/30,000 to 1/50,000 have the disease

1 in 85 Caucasians are carriers

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.

Most patients begin to experience symptoms around or before puberty (10 to 15 years of age). While presentation of the disease is different in every patient, gait ataxia and general clumsiness are the most common presenting symptoms.

Age of onset3

RECOGNIZING FRIEDREICH’S ATAXIA1,2

Skeletal Ataxia NeurologicalCardiovascular/

Metabolic

Often, FA is diagnosed many years after the first symptoms appear. An earlier diagnosis would allow FA patients to get the support they need from a multidisciplinary care team. The hope is that managing patients’ symptoms earlier would allow patients with FA to maintain their independence longer.

FA is a multisystemic neurological disorder with an early age of onset in childhood or adolescence. The clinical presentation of FA is broad, but consistently involves gait and limb ataxia, slowed or slurred speech, loss of lower limb reflexes, distal weakness in the hands and feet, and likely cardiac involvement and increased risk for diabetes. One way to help differentiate it from other ataxias is to remember:

Note: The FA SCAN collectively represents manifestations of FA and is suggestive of an FA diagnosis. Typical age of onset of symptoms varies.

• Scoliosis

• Arched foot/ foot deformity

• Cardiomyopathy

• Cardiac arrhythmias

• Glucose intolerance/hyperglycemia

• Progressive ataxia (legs and arms)

• Dysarthria

• Nystagmus

• Atrophy of spinal cord• Babinski reflex• Areflexia• Loss of proprioception

and vibratory sense• Hearing loss

FA SCAN

Look for more information about the multidisciplinary care team in the Friedreich’s Ataxia Backgrounder brochure.

S C A N

DIFFERENTIATING FRIEDREICH’S ATAXIA FROM OTHER ATAXIAS1,3

References: 1. 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. 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.

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