Friedreich's ataxia: symptoms, causes, to treatment

Definition

What is Friedreich's ataxia?

Friedreich's ataxia is a rare genetic disease that causes defects in the nervous system. This disease can cause muscle weakness, problems with movement (such as clumsiness, clumsiness), difficulty speaking or heart problems.

Friedreich's ataxia is a disease that was discovered by the doctor Nicholas Friedreich. In addition to discovering this pathology for the first time in the 1860s, the name Doctor Friedreich was also used as a result of these findings.

Basically, ataxia is a disease related to coordination and balance problems, occurs in many diseases and various medical conditions. Friedreich's ataxia is a disease that attacks the nerve tissue in the spinal cord and the nerves that control movement of the arms and legs get worse.

The spinal cord becomes thinner and the nerve cells lose the sheath (myelin, complex protein and phospholipids) that help the nerves deliver stimulation.

How common is this condition?

Friedreich's ataxia is an equally risky disease for both men and women. Symptoms usually start between the ages of 5 and 15. You can lower your chances of developing this disease by reducing your risk factors. Please consult your doctor for more information.

Signs & symptoms

What are the signs and symptoms of Friedreich's ataxia?

Symptoms of the stage of Friedreich's ataxia are difficulty walking (gait ataxia). This condition will gradually worsen and spread to the arms and then to the torso. The first signs that appear are abnormalities in the feet (bent legs, bent toes involuntarily, deformed legs or bent legs). Weak joints (especially in the feet and hands).

Other symptoms include loss of reflex motion (knees and ankles), loss of sensation in the legs and can spread to other parts of the body. The patient becomes easily tired and stutters when speaking slowly. Most patients with scoliosis (the spine bent to the side) are prone to breathing problems.

Other symptoms of Friedreich's ataxia are chest pain, shortness of breath, palpitations, abnormal heartbeats. As the disease progresses, some patients develop diabetes and some people lose hearing and vision.

The progression of the disease varies from person to person, but after many years from the first symptoms, the patient may need to use a wheelchair. Most patients die at an early age if they have chronic heart disease (the most common cause of death for this disease).

There may be other symptoms and signs not listed above. If you have concerns about the symptoms of this disease, please consult your doctor.

When should I see a doctor?

Friedreich's ataxia is a condition that has specific symptoms, you should see your doctor if you notice any of the signs or symptoms listed above, or you:

• Frequent falls or difficulty swallowing, shortness of breath or chest pain;
• Have diabetes symptoms (excessive thirst and frequent urination, weight loss);
• Have a genetic disorder.

Cause

What causes Friedreich's ataxia?

Friedreich's ataxia is a disease that can be inherited and carried by autosomal cells, which means that it can only be obtained from both mutated genes from the father and the mother. The nerve tissue in the spinal cord and nerves that control muscle movement in the arms and legs causes motor degeneration.

This is a disease caused by a genetic mutation called FXN (also called frataxin). Frataxin is a protein required in the nervous system, heart and pancreas. Protein will experience a decrease in the body of people who suffer from Friedreich's ataxia.

Risk factors

What increases the risk of developing Friedreich's ataxia?

Friedreich's ataxia is an inherited disease, so you are at increased risk if someone in your family has the disease.

Medicines & Medicines

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the treatment options for Friedreich's ataxia?

To date, there are no methods that can cure Friedreich's ataxia. However, treatment can help patients rehabilitate as best they can. You can use drugs to treat diabetes and heart disease. A walker or surgery may be effective for foot deformities and scoliosis.

Physical therapy and speech therapy can be used to prevent reduced bodily functions. You may also need a walking aid to help you move. Braces and orthopedic devices or performing various other types of surgery may be required.

Meanwhile, taking medication can be used to treat heart disease and diabetes.

What tests are usually done to diagnose this condition?

Reporting from Healthline, the doctor will see your medical history and perform a complete physical examination. This includes a detailed neuromuscular examination. The examination will focus on problems with your nervous system.

The doctor will look for signs of damage, including poor balance, lack of reflexes, and a lack of feeling in your joints.

Your doctor may also order CT scans and MRIs of your brain and spine. MRI aims to look at images of the structures inside your body. Meanwhile, a CT scan produces images of the bones, organs, and blood vessels. You may also be asked to do a head and chest x-ray.

In addition, your doctor may ask you to do genetic tests to see if there is a defective gene that causes Friedreich's ataxia. The doctor will then have you take an electromyography exam to measure the electrical activity in your muscle cells.

An eye exam to check for signs of optic nerve damage may also be done. The doctor may also look for possible heart disease with an electrocardiogram.

Home remedies

What are some lifestyle changes or home remedies for Friedreich's ataxia?

Lifestyle and home remedies can help you deal with these conditions:

• Perform regular repeat checks to monitor the progress of your symptoms and your health.
• Follow the doctor's directions and advice, do not carelessly use over-the-counter drugs or purposely do not take prescription drugs made for you.

There is no way to prevent Friedreich's ataxia. This condition is hereditary, so genetic counseling and screening is recommended if you have Friedreich's ataxia and plan to have children.

If you have any questions, consult your doctor for the best solution to your problem.