Treatments for Friedreich’s Ataxia
Fortunately, there are many treatments available for Friedreich’s Ataxia. However, it is not uncommon for people to have difficulty choosing which ones are right for them. This article offers information on some of the most common treatment options.
Symptoms
Symptoms of Friedreich’s Ataxia (FA) begin in children, usually between the ages of five and 15. The disease affects the nervous system, including the spinal cord and pancreas, resulting in unsteady movements and impaired sensory functions. People with FA may also develop diabetes and heart disease.
The symptoms of FA are caused by an expansion of the GAA trinucleotide repeat in the FXN gene. This mutation leads to an abnormally low amount of a protein called frataxin, which is needed to protect cells from the damaging effects of free radicals. This causes nerve fiber damage in the spinal cord. The disease also causes visual disturbances and hearing loss.
Friedreich’s ataxia is a hereditary condition passed from parents to children. Individuals with more than two copies of the abnormal GAA repeat have more severe symptoms than those with one copy of the abnormal chromosome. This is why genetic testing is used to determine whether an individual has FA. Genetic testing is also used to determine the risk of passing the condition to children.
When a person develops Friedreich’s ataxia, the symptoms begin in the legs, but progress to other parts of the body. The disease is thought to be caused by a genetic sequence that causes severe damage to the spinal cord. People with FA are usually confined to a wheelchair within 15 to 20 years of developing the first symptoms.
People with Friedreich’s ataxia can develop heart disease, which can lead to heart failure and chest pain. Heart disease is the leading cause of death in people with the condition. Symptoms of heart disease vary by severity, but common signs and symptoms include shortness of breath and chest pain.
People with Friedreich’s ataxia may also experience hearing loss and slurred speech. They may also develop scoliosis, which is a deformity of the spine that can interfere with breathing. Treatment for the disease is usually aimed at limiting symptoms and treating underlying conditions. Some patients may require surgery or physical therapy. Other treatment methods include speech therapy and orthopedic devices. Occupational therapy can help people learn new tasks and improve coordination.
Causes
Usually diagnosed in childhood, Friedreich’s ataxia is an inherited disease that is characterized by progressive damage to the nervous system. The most common symptoms include problems with balance and coordination, loss of muscle coordination, and muscle fatigue. Some people may also develop heart problems and diabetes.
Although the disease has no known cure, doctors are researching treatments for it. Treatments include surgery, braces, and occupational therapy. Medications are also given to treat the disease’s associated medical conditions.
Friedreich’s ataxia is caused by an abnormal gene called the frataxin gene. People with this gene produce less frataxin, which causes a disruption in energy production in cells. The lack of frataxin affects nerve fibers in the spinal cord and the peripheral nerves. The lack of frataxin disrupts the function of the mitochondria limine enzymes, which are part of the energy-producing machinery of the cell.
As the disease progresses, it causes damage to the nervous system and heart. Symptoms of heart disease include chest pain, palpitations, and shortness of breath. It is important to call your doctor if you have new symptoms.
Friedreich’s ataxia can be diagnosed by undergoing a medical exam. Your doctor will look at your medical history and run a variety of tests. They can include blood tests, an MRI or CT scan, and an electrocardiogram. You may also need to have an eye exam to check for damage to the optic nerve.
Friedreich’s ataxia may also lead to foot deformities and heart problems. It can also shorten your life expectancy. The disease affects approximately 1 in 40,000 people worldwide. Most people with the disease are diagnosed in late childhood or early adolescence. However, some people live until their 50s.
The treatment for Friedreich’s ataxia focuses on limiting symptoms as they occur. Medications for diabetes, heart disease, and foot deformities are also given to patients. Occupational therapy and speech therapy are also offered. Some patients may require a wheelchair.
A person with Friedreich’s ataxia can also live a longer life, but the disease tends to worsen over time. Symptoms of FA usually begin in childhood and move to the arms and legs.
Diagnosis
Often called Friedreich’s disease, this condition is an autosomal recessive genetic disorder that causes slowly progressive ataxia. In most cases, the symptoms begin in early childhood. However, in about one in ten people, the condition’s onset is delayed until later in life. Symptoms of Friedreich’s disease may include difficulty walking, speech problems, and muscle weakness. In addition, heart and lung problems may develop.
Friedreich’s disease is caused by a mutation in the gene FXN. This gene is found in the peripheral nervous system, which is the body’s system of nerves that carry information from the brain to the body. When a mutation occurs, the peripheral nerves do not function properly. This causes damage to the spinal cord, leading to a lack of sensation in the arms and legs. The damage may also spread to the joints and spread to other parts of the body.
People with Friedreich’s disease have a greater chance of developing diabetes. Diabetes is caused by a deficiency of insulin. Symptoms of diabetes include increased blood glucose levels and hyperglycemia. Those with Friedreich’s ataxia may also develop heart problems, such as heart palpitations.
Most people with Friedreich’s disease will live until they are about 40 or 50 years old. However, some individuals will live into their 60s and even beyond. The condition has no known cure, although breakthrough treatments are being researched. Several new drugs are being developed to treat the disease.
Friedreich’s ataxia may cause scoliosis, which is a curvature of the spine. Approximately two-thirds of people with the disease will develop scoliosis. Scoliosis is often severe and can interfere with breathing and other activities. Some individuals with scoliosis may require surgery to correct it.
The disorder affects many different body parts, including the muscles, bones, and heart. In some cases, the condition is inherited from both parents. In some cases, the disorder may not affect the brain.
Symptoms of Friedreich’s disease can cause complications, such as heart failure and hearing loss. People with the disease tend to have shorter life spans than those who do not have the condition. In addition, the disease can cause weakened heart muscle and nerve fiber damage in the spinal cord.
Treatments
Symptoms of Friedreich’s ataxia (FA) start in the legs and can progress to the arms and trunk. They can also affect the heart. Heart disease is the leading cause of death in people with FA. Some symptoms include heart pain, chest pain, shortness of breath, and slurred speech.
Symptoms usually begin when a person is about five or 15 years old. People with FA have problems with coordination, muscles, and the nervous system. They may also have problems with their vision and hearing.
The disorder is caused by a mutation of the FXN gene. This gene produces a protein called frataxin, which is needed for the mitochondria to produce energy. People with FA produce less frataxin than normal. This causes the muscle cells in the arms and legs to weaken.
Treatments for Friedreich’s ataxia include surgery, physical therapy, and orthotics. In addition to limiting symptoms, these therapies can help a person’s quality of life.
Researchers have also found a compound that slows the progression of FA in mice. This compound has a specific enzyme that blocks the progression of the disease. Researchers believe that this enzyme could be the target of future therapies for FA. They are testing the compound in a new mouse model to test the effects of the drug.
One treatment for Friedreich’s ataxia is angiotensin-converting enzyme (ACE) inhibitors. Another is beta-blockers. Some of the drugs are used to control high blood pressure, which is a common symptom of the disease.
Several companies focus on treatments for Friedreich’s ataxia. Companies such as Minoryx and Intas Pharmaceuticals, LLC, are major players in the global market.
Research into the cause of Friedreich’s ataxia has been accelerated by a new genetic mutation. A new compound that blocks this enzyme stopped the progression of the disease in mice. Researchers are sharing this strain with other labs to help them identify drug targets.
Treatments for Friedreich’s Ataxia include orthotics, surgery, and medications. Many people with FA live full and rewarding lives. However, it’s important to keep in mind that medical technology cannot predict how quickly the disease will progress.
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