Is Friedreich's ataxia a contagious disease?

No, Friedreich's ataxia is not a contagious disease. It is a rare genetic disorder that affects the nervous system, resulting from a specific genetic mutation. This disease cannot be transmitted from person to person through direct or indirect contact, and it is not caused by bacteria, viruses, or any other infectious agents.

What causes Friedreich's ataxia?

Friedreich's ataxia is caused by a defect (mutation) in a gene called FXN, which is responsible for producing a protein called frataxin. This protein is essential for mitochondrial function, the part of the cell responsible for energy production. In Friedreich's ataxia, an abnormal pattern in the protein's DNA sequence appears (a GAA triplet repeat) hundreds of times or more, which significantly disrupts the normal production of frataxin [1].

Research indicates that without a normal level of frataxin, certain cells in the body, especially peripheral nerve cells, the spinal cord, brain, and heart muscles, produce energy less efficiently. This can lead to the accumulation of toxic byproducts, causing what is known as "oxidative stress." A lack of normal frataxin levels may also lead to increased iron levels in the mitochondria. When excess iron reacts with oxygen, free radicals can form, which can damage cells and harm the body [1].

How is Friedreich's ataxia inherited?

Friedreich's ataxia is inherited in an autosomal recessive pattern. This means a person must inherit two defective copies of the FXN gene, one from each parent, to develop the disease [1]. A person who inherits only one abnormal copy of the gene is called a carrier. A carrier will not develop the disease but can pass the genetic mutation to their children [1].

Genetic testing can determine if a person is a carrier for Friedreich's ataxia and if they will pass the disease to any future children [1]. To learn more about this disease and its symptoms, you can visit the page Friedreich's ataxia: A genetic disease affecting movement coordination and the heart (Arabic).

Is there a cure for Friedreich's ataxia?

There is currently no cure for Friedreich's ataxia [1]. However, many of the associated symptoms and complications can be treated or managed to help people maintain their daily functions and activities for as long as possible [1]. In 2023, the US Food and Drug Administration (FDA) approved the first drug, called omaveloxolone, to treat Friedreich's ataxia in individuals aged 16 years or older [1].

People with Friedreich's ataxia should receive care from a multidisciplinary team of specialists who can support medical treatment as well as functional support through physical therapy [1]. Doctors may prescribe treatments for diabetes, if present, and some heart problems can also be treated with medication. Skeletal issues such as foot deformities and scoliosis can be corrected using braces or surgery [1].

What tests help diagnose Friedreich's ataxia?

Genetic testing can provide a definitive diagnosis for Friedreich's ataxia. The diagnosis of Friedreich's ataxia should also include a thorough medical history and physical examination by a doctor. The healthcare provider will look for difficulty with balance, loss of sensation, absent reflexes, and signs of other neurological problems [1].

Other tests that may help diagnose or manage the disorder include:

• Electromyography (EMG): Measures the electrical activity of muscle cells [1] [2].

• Nerve conduction studies: Measure the speed at which nerves transmit impulses [1] [2].

• Electrocardiogram (ECG): Gives a graphic display of the electrical activity or pattern of the heartbeat [1].

• Echocardiogram: Records the movement and function of the heart muscle [1].

• Blood tests: To check for elevated glucose and vitamin E levels seen in Friedreich's ataxia [1].

• Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) scan: Provides images of the brain and spinal cord that are useful for looking for thinning of the spinal cord and cerebellum, as well as for ruling out other neurological conditions [1].

Medical references

• Friedreich Ataxia
• Electromyography (EMG) and Nerve Conduction Studies
• Friedreich Ataxia