What is the life expectancy for Friedreich's ataxia patients?

Friedreich's ataxia is a rare genetic disorder that progressively affects the nervous system and can also impact the heart. There is no fixed, specific life expectancy for all patients with Friedreich's ataxia, as the progression of the disease varies from person to person. In general, heart disease is the most common cause of death in people with Friedreich's ataxia. However, some individuals with less severe cases may live into their sixties or beyond [1].

Symptoms typically begin between the ages of 5 and 15, but can sometimes appear after age 25. The disease usually requires the use of a wheelchair within 10 to 20 years of the first symptoms appearing, and some individuals may become completely immobile in the later stages [1].

The impact of Friedreich's ataxia on the heart

Cardiomyopathy is a common complication of Friedreich's ataxia, a disease affecting the heart muscle that may lead to heart failure or arrhythmias. These cardiac complications are the leading cause of death in patients with Friedreich's ataxia [1]. Therefore, regular monitoring of heart health is an essential part of managing the disease.

The importance of diagnosis and follow-up

Friedreich's ataxia is usually diagnosed through a clinical examination and medical history, in addition to genetic testing that confirms the diagnosis [1]. Other tests may include electromyography (EMG) and nerve conduction studies to evaluate the electrical activity of muscles and the speed of nerve signal transmission [1] [2]. An electrocardiogram (ECG) and an echocardiogram are also performed to evaluate heart function [1].

Scales such as the Friedreich's Ataxia Rating Scale (FARS) are used to assess neurological function and symptom severity over time, which helps physicians track the progression of the disease [1].

Managing symptoms and improving quality of life

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

Friedreich's ataxia patients receive care from a multidisciplinary team that includes neurologists, physical therapists, cardiologists, and nutritionists. Treatment may include the following:

• Physical therapy: To help maintain arm and leg function for as long as possible [1].
• Speech and language therapy: To help with swallowing and speech problems [1].
• Medications: To treat heart disease and diabetes if present [1].
• Surgical interventions: To correct bone problems such as foot deformities and spinal curvature (scoliosis) [1].
• Hearing aids: To help with hearing loss associated with the disease [1].

For more information about this disease, you can visit Friedreich's ataxia: A genetic disease affecting movement coordination and the heart (Arabic).

When should emergency care be sought?

Because heart disease is the most common cause of death, patients with Friedreich's ataxia and their families should be attentive to any symptoms that may indicate worsening heart condition. If the patient experiences chest pain, severe shortness of breath, fainting, or severe and irregular heart palpitations, emergency care should be sought immediately. These symptoms may indicate an acute cardiac issue requiring urgent medical intervention.

Medical references

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