Friedreich's ataxia is a rare neurological disease that causes sufferers to have difficulty walking, loss of feeling and control over the hands and feet, and difficulty speaking. Friedreich's ataxia is a progressive disease that gets worse over time.
A person can experience Friedreich's ataxia if both parents have the abnormality in the FXN gene (frataxin). This disease can occur in both men and women.
Friedreich's Ataxia Causes
Friedreich's ataxia is caused by an abnormality or mutation in the FXN gene (frataxin) on chromosome number 9, which is passed on by both parents to their children. Abnormalities in these genes will cause damage to the cerebellum and spinal cord so that sufferers will find it difficult to control the movement of their limbs.
A person who has a family history of Friedreich's ataxia is more at risk of developing this disease. If only one parent has Friedreich's ataxia, the child can become carrier or carriers of this disease even though they do not have abnormalities.
Symptoms of Friedreich's Ataxia
Friedreich's ataxia symptoms can appear in the age range of 2-50 years. However, often the initial symptoms of ataxia appear at the age of 10-15 years. The most common initial symptoms are difficulty walking and changes in gait. The patient will appear unsteady and fall more often when walking.
Other symptoms that can appear in Friedreich's ataxia are:
- Increase in the arch of the foot (scoliosis pes cavus) or other deformities of the feet, such as clubfoot.
- Reduced to absence of tendon reflexes in the legs or lower limbs.
- Visual disturbances.
- Hearing disorders.
- Speech disorders (dysarthria).
- Scoliosis.
- Muscles feel sore
- Lack of coordination between limbs.
- Difficulty feeling vibrations or movement in the legs and feet
In addition to some of the symptoms above, cardiomyopathy and diabetes also often appear in people with Friedreich's ataxia.
Symptoms can continue to get worse until the sufferer is unable to walk or is paralyzed. Sufferers also have to use assistive devices, such as wheelchairs, or just lie down in bed.
As the disease progresses, neurological disorders due to Friedreich's ataxia will also affect the hands and cause hand tremors or weakness.
When Friedreich's ataxia is very severe, the patient will have difficulty speaking and swallowing due to facial nerve disorders. If it continues, people with ataxia will experience weakness in the facial muscles and difficulty speaking, breathing, swallowing, and laughing.
When to go to the doctor
The early symptoms of Friedreich's ataxia are difficult to identify. However, immediately consult a doctor if you experience problems while walking. The doctor will find out the cause of the complaints experienced and provide appropriate treatment.
A doctor's examination also needs to be done if one of the family members has a history of Friedreich's ataxia. Ask your doctor about the risk of developing the disease in other family members.
Friedreich's Ataxia Diagnosis
At the beginning of the examination, the doctor will ask for complaints, symptoms suffered, and the patient's and family's medical history. A family medical history is needed to determine the possibility of a carrier or carrier Friedrieich's ataxia gene in families.
After that, the doctor will perform a physical examination to confirm the symptoms of Friedreich's ataxia. Based on recommendation World Federation of NeuroologyDuring a physical examination, the doctor will perform the following examinations:
- Walking ability.
- walking speed.
- Ability to stand with eyes open.
- Ability to spread legs with eyes open
- Ability to stabilize the body in case of shock with eyes open and closed.
- Stability of sitting position.
- Movement function.
- The ability to speak, including fluency and clarity in speaking.
- Eyeball movement.
If Friedreich's ataxia is suspected, the doctor will ask the patient to undergo a nerve conduction examination. This test is used to measure the speed of nerve excitation through the nerves. This test can provide information if there is nerve tissue damage using electrodes placed on the skin of the leg.
In addition to nerve conduction tests, some other tests that may be undergone by Friedreich's ataxia sufferers are:
- EchocardiographyEchocardiography is used to analyze the condition of nerve stimulation of the heart using sound waves.
- MRI scanAn MRI scan of people with Friedreich's ataxia focuses on the brain and spine. In patients with Friedreich's ataxia, damage to the cervical spinal cord can be found.
Friedreich . Ataxia Treatment
Keep in mind, Friedreich's ataxia cannot be cured. Treatment steps are aimed at controlling the symptoms that arise and preventing complications that may arise. Friedreich's ataxia treatment is carried out by involving various doctors, especially neurologists, geneticists, and physiotherapists.
During treatment, the doctor will perform periodic examinations over several years to monitor the condition of the nervous system, heart, muscles and bones, and other organ systems.
Various treatments that can be done are as follows:
- Physiotherapy and use of mobility aids.
- Treatment of heart failure and arrhythmias.
- Treatment for
- Talk therapy.
- Surgery to treat disorders or deformities in the legs and bones.
- Counseling and antidepressant drugs to treat depression.
- Modify the pattern and type of food, if the patient has difficulty swallowing food.
Friedreich's Ataxia Complications
Friedreich's ataxia will get worse over time. After 15-20 years, the various symptoms of Friedreich's ataxia will get worse, and complications can even arise, such as:
- Difficult to digest carbohydrates
- Diabetes
- Cardiomyopathy
Arrhythmias and heart failure are the main causes of death in patients with Friedreich's ataxia, which generally occurs in the age range of 35-50 years.
Friedreich . Ataxia Prevention
Friedreich's ataxia arises due to genetic factors, so it cannot be prevented. However, if you learn that one family member has a history of Friedreich's ataxia, the rest of the family can undergo genetic testing
Genetic testing of family members who are at risk and a history of Friedreich's ataxia can be performed before birth. In addition, genetic examination of prospective married couples, especially those with a family history of Friedrich's ataxia, can also be performed.
