Treating Friedreich’s ataxia

How is FA diagnosed?

Diagnosing FA as early as possible is critical due to the progressive nature of the disease. Studies have shown that individuals younger than the age of 18 years progress faster than those with intermediate to late onset.^1,2

The diagnostic journey may begin with a primary care doctor or pediatrician performing assessments to check your balance, sensations, reflexes, and more. If their suspicion of FA grows stronger, they may refer you to a series of specialists who can conduct additional tests such as³

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  Electromyogram (EMG) – Measures the electrical activity of muscle cells

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  Nerve conduction studies – Measures the speed with which nerves transmit impulses

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  Electrocardiogram (ECG) – Provides a graphic presentation of the electrical activity or beat pattern of the heart

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  Echocardiogram – Records the motion and function of the heart muscle

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  Blood test – Checks for elevated glucose and vitamin E levels seen in FA

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  Magnetic resonance imaging (MRI) or computed tomography (CT) scans – Provides images of the brain and spinal cord

A genetic test is the only way to confirm an FA diagnosis.³

Your doctor should order a genetic test to confirm their suspicions. A genetic test will determine if the mutated gene that leads to frataxin deficiency, the root cause of FA, is present.³ It will also identify the number of GAA repeats, which may give insight into how the disease could progress over time.⁴

In order to be affected by FA, you have to inherit 2 mutated genes, 1 from each parent. If you inherit only 1 copy of the mutated gene, you are considered a carrier. A carrier will not develop FA but can pass on the mutated gene to their children. If 2 carriers have children, each child has a 25% chance of developing FA.^3,5

A genetic counselor can help you and your family better understand how FA is inherited and if other family members could be affected.⁵

How is FA managed?

Managing FA involves treatment with medication and different forms of therapy, including physical, occupational, speech, and language. In some cases, surgery is required, as well as addressing any related complications, such as diabetes or heart conditions.^1,3

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  Upright stability assessment

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  9-hole peg test

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  Timed 25-foot walk test

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  Patient-reported outcomes (PROs), such as Friedreich Ataxia Rating Scale-Activities of Daily Living (FARS-ADL), Modified Fatigue Impact Scale, etc.

What’s missing in FA treatment?

Research is ongoing to help develop treatments that address the root cause of the disease—frataxin deficiency—and not just its symptoms.⁴

In a national survey of 50 physicians who treat patients with FA: 94% agree there are still patient needs that are not being met in FA treatment.⁸

In a national survey of 50 physicians who treat patients with FA: 98% believe there is a need for a treatment that targets frataxia levels directly.⁸