5 answers about Friedreich ataxia (FA)

Friedreich ataxia (FA) is a disease that affects the nervous system. FA causes progressive damage to the nerves in the spinal cord and the peripheral nervous system, which connects the brain and spinal cord to the skin, muscles, and organs. FA also causes damage to other parts of the body, including the tissues that make up the heart and insulin-producing cells in the pancreas.

Why is it called Friedreich’s ataxia?

FA is named for the German physician Nikolaus Friedreich, who first documented the condition in 1863. Ataxia refers to problems with muscle control and coordination, and is not a specific disease, but a neurological problem that occurs because of another underlying condition.

Who is affected by FA?

People who have FA typically experience their first symptoms as children or teenagers. However, there is also late-onset FA (LOFA), where symptoms begin after age 25, and very late onset FA (VLOFA), where symptoms begin after age 40. These late-onset types are less common and typically less severe.

FA in general is uncommon, affecting approximately 1 in 40,000 people worldwide. It is most common among people of Western European descent, and most often affects people living in Europe, the Middle East, South Asia, and North Africa.

What causes FA?

FA is a hereditary disease. It is acquired from genetic mutations that a person inherits from their biological parents. More specifically, FA is caused by mutations to the FXN gene:

• The FXN gene contains instructions for making frataxin.
• Frataxin is a protein found in mitochondria, which are energy-producing structures inside cells.
• Mitochondria require frataxin to function normally, including producing energy and regulating iron levels.
• Without enough frataxin, cells cannot produce enough energy and iron levels become too high. Elevated iron levels are damaging to the body, generating excess amounts of molecules called free radicals. Excess amounts of free radicals create stress and damage to components within the cell.
• The loss of energy-producing capabilities and free-radical damage causes cells to deteriorate and die.
• Nerve cells and cardiac muscle cells have the highest frataxin requirements in the body and are the most susceptible to this damage.

FA is a progressive condition, meaning the damage that it causes gets worse over time, and symptoms become more severe over time.

What are the symptoms of FA?

The primary symptoms of FA are ataxia and other neurological symptoms. Ataxia typically begins in the lower limbs and spreads to the trunk and the upper limbs as the disease progresses. Signs and symptoms can include:

• Difficulty standing, walking with an uneven or irregular gait, and lack of control over movements
• Tremors and uncontrolled movements in the arms, trunk, and face
• Loss of sensation (for example, in the soles of the feet)
• Muscle weakness, fatigue, and daytime sleepiness
• Slurred speech and difficulty swallowing
• Vision loss and hearing loss
• Sideways curvature of the spine (scoliosis)

As FA progresses, it can cause heart problems, including irregular heartbeat and heart failure. FA can also damage insulin-producing cells in the pancreas, and some people with the condition develop diabetes.

How is FA treated?

There is no cure for FA, and treatment mostly focuses on addressing the symptoms and complications caused by the condition. This can include strategies like physical therapy, occupational therapy, and speech therapy, which can help a person adjust to changes in mobility and functioning. It can also include therapies to treat cardiovascular disease and diabetes.

The first medication to treat FA became available in 2023. The drug does not alter the course of the disease, but it can help slow progression of the disease.

Other therapies for FA are under development.