What is Friedreich's ataxia?

Friedreich's ataxia (FA or FDRA) is a rare genetic disorder that leads to progressive damage to the nervous system and movement difficulties. It typically starts in childhood and results in progressively worsening muscle coordination issues, known as ataxia.

In addition to affecting coordination, Friedreich's ataxia can impact other parts of the body, including the skeletal system, heart, and pancreas. Importantly, it does not affect cognitive functions, meaning thinking and reasoning abilities remain intact.

Although Friedreich's ataxia is the most common form of hereditary ataxia, it is still considered a rare disease. It affects approximately 1 in every 50,000 people in the United States and about 1 in every 40,000 people worldwide.

The condition is named after Nikolaus Friedreich, the pathologist who first described it in 1863.

It is quite scary to see your child develop symptoms like coordination and movement problems. You worry about how bad it will get and eventually, how it will impact your child's life. The best thing to do now is to consult a health professional specialising in such conditions. They can reduce any anxiety and answer your questions as you move ahead.

Types of Friedreich's ataxia

In typical FA, symptoms typically start before age 25. There are also two atypical types of FA, which are present in approximately 15% of all FA patients:

• LOFA: You begin to show symptoms after age 25.
• VLOFA: In VLOFA, your signs and symptoms begin after age 40.
• LOFA and VLOFA often progress more slowly than typical FA.

What are the symptoms of Friedreich's ataxia?

Symptoms of Friedreich's ataxia typically start between the ages of 5 and 15. Yet for some people with FA, symptoms may begin as young as 2 and as old as 50.

The first neurological symptom to occur is typically weakness in the legs or gait ataxia, difficulty standing and walking, and loss of balance. Over time, the symptoms worsen, and new symptoms can appear.

The major neurological symptoms of FA are:

• Muscle weakness
• Ataxia, impaired balance, and coordination.
• Touch sensation loss (peripheral neuropathy).
• Decreased reflexes (hyporeflexia).
• These may manifest as
• Tenderness of the body to stand, walk, or run.
• Repetitive jerking movements caused by chorea.
• Loss of sensation: it begins in the legs and then expands to the arms and abdomen.
• Fatigue
• Slow, slurred speech (dysarthria).
• Difficulty swallowing (dysphagia).
• Muscle tightness (spasticity).
• Loss of proprioception.
• Decreased hearing.
• Blurred vision
• Scoliosis and or/foot deformities, among them inversion of the feet and pes cavus, a shortened foot with a high arch.
• Complications of Friedreich's ataxia

About 75% of patients with FA present with cardiac complications. The most common include:

• Cardiac autonomic neuropathy.
• Hypertrophic cardiomyopathy.
• Irregular heartbeat (arrhythmia).
• Other cardiac complications that can arise because of FA include the following
• Myocarditis
• Myocardial fibrosis (scarring in your heart muscle).
• Cardiomegaly

Congestive heart failure can occur due to dilated or hypertrophic cardiomyopathy. Other issues may include a fast heartbeat (tachycardia), irregular heartbeat (atrial fibrillation), and heart block.

Additionally, FA can hurt the cells in your pancreas that produce insulin, which is vital for keeping your blood sugar levels healthy. If your body doesn’t have enough insulin, your blood sugar levels can rise, causing hyperglycemia. This can lead to diabetes. About 30% of people with FA develop diabetes.

What causes Friedreich's ataxia?

Friedreich's ataxia is a genetic condition. There is a mutation in the FXN gene, which carries the code for an essential protein called frataxin.

This protein is found within the energy-generating parts of your cells, or mitochondria. Scientists do not know much about its function but state that frataxin is integral to the mitochondria's function. The alteration in the gene responsible for the syndrome significantly impairs the normal expression of frataxin.

Without a normal level of frataxin, your body's cells for energy are poorly produced and generate toxic byproducts that accumulate. Oxidative stress causes damage to your cells.

FA impairs cells in the following parts:

• Peripheral nerves
• Spinal cord
• Brain, particularly your cerebellum
• Heart muscle
• Friedreich's ataxia inheritance pattern

Friedreich's ataxia is caused by inheriting two copies of a mutated gene called FXN, one from each parent. This is called autosomal recessive inheritance.

Parents of a person with this condition each carry one copy of the mutated gene, making them carriers. However, they usually do not show any signs or symptoms of the condition.

How is Friedreich's ataxia diagnosed?

First, the doctor will ask about the symptoms and medical history of your child. Then, a complete physical exam and neurological exam will be conducted.

The provider of your child will then most likely recommend different tests. The main test that can affirm Friedreich's ataxia is genetic testing. Their provider may order other tests that can help in the diagnosis and/or to evaluate areas of your child's body that might be affected by FA. These are:

• MRI or CT scans: These tests create images of your brain and spinal cord. Your doctor can use these images to help rule out other neurological problems.
• Electromyogram (EMG) and nerve conduction studies: These tests check how well your muscles and nerves are working.
• Electrocardiogram (EKG): This test shows the electrical activity and heartbeat pattern of your heart.
• Echocardiogram: This test provides pictures of how your heart moves.
• Blood tests: Your doctor may order blood tests to check your blood sugar levels and vitamin E levels.

What is the treatment for Friedreich's ataxia?

In 2023, the U.S. Food and Drug Administration approved the first medication specifically to treat Friedreich's ataxia: omaveloxolone (SKYCLARYS™) — for people over age 16. Studies have also shown that omaveloxolone can improve both neurological function and ataxia. Further study is needed on the long-term effect of omaveloxolone.

Omaveloxolone is not a cure for FA. Apart from this drug, the primary treatment aim is to help alleviate symptoms and complications of FA to ensure maximum functioning for as long as possible. Such treatment may involve:

• Physical therapy to extend muscle function and enhance coordination, balance, strength, and stabilization.
• Speech therapy helps your child retrain their tongue and face muscles to improve their speech and swallowing skills.
• Corrective braces or surgery for orthopaedic problems, such as foot deformities and scoliosis.
• Medication for certain heart conditions, if present.
• Medication for diabetes, if present.
• Pain management therapies.
• Antibiotics to prevent or treat infections.
• Mobility support devices, such as orthopaedic shoes, canes, and wheelchairs.
• Heart transplantation if you have a milder form of FA but significant cardiomyopathy.

You will probably require a team of healthcare specialists in managing FA. The team may include:

• Neurologists.
• Cardiologists.
• Medical and biochemical geneticists.
• Endocrinologists.
• Physical therapists.
• Speech-language pathologists.
• Occupational therapists.
• Orthopaedic surgeons.
• Psychologists.

Friedreich's ataxia affects everyone differently and at different rates. Your child's healthcare team will develop an individualized plan for therapy that will change as your child grows.

Can I prevent Friedreich's ataxia?

Since Friedreich's ataxia is a genetic condition, nothing can be done to prevent it. If you ever intend to have a biological child, discuss testing with your healthcare provider or a genetic counselor to determine your risk of having a child with a genetic disorder such as Friedreich's ataxia.

What is the prognosis (outlook) for someone with Friedreich's ataxia?

No two people with Friedreich's ataxia are affected in the same way. You cannot predict your prognosis with any accuracy at all. The best way you can prepare to approach what will happen is to speak with health care providers who have a history of studying and treating Friedreich's ataxia.

Friedreich ataxia life expectancy

Because Friedreich's ataxia is a degenerative condition and continues to worsen, most people with FA do not live as long as the average person. The leading cause of death in people with FA is hypertrophic cardiomyopathy.

FA differs for everyone. Many people with FA live past their 30s, while some live well into their 60s and beyond.

Living With

How often should I see my doctor?

If you or your child have Friedreich's ataxia, you will need to see your team of health providers regularly for treatment and monitoring of the symptoms.

To seek an expert consultation

Call us at +91-9076972161
Email at care@tenderpalm.com

Request a Call Back