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Friedreich's Ataxia : Symptoms, Causes and Treatment

Friedreich ataxia is a degenerative nerve disease that affects the nervous system and the heart. Friedreich's ataxia is a genetic disease and is inherited through the autosomal chromosome with recessive genes. This disease is often associated with cardiomyopathy (heart muscle abnormalities) and diabetes. Friedreich's ataxia was first identified by Nikolaus Friedreich in 1863, and the gene that caused it was discovered in 1996.

Nerve degeneration due to Friedreich's ataxia will make it difficult for sufferers to walk, lose feeling and control of the hands and feet, and have difficulty speaking. Until now, Friedreich's ataxia has not been treated. The treatment available only aims to help sufferers control the symptoms that arise. Friedreich ataxia is a progressive degenerative disease and can cause death in sufferers. More than 95% of patients with this disease must use a wheelchair at the age of 45 years. Deaths caused by Friedreich's ataxia range in age from 35-50 years.

Symptoms of Friedreich's  Ataxia

The initial symptoms of Friedreich's ataxia generally appear before the age of 20 years. Nonetheless, it does not rule out the possibility that the initial symptoms of Friedreich's ataxia appear in the elderly over 50 years. The initial symptoms of ataxia that can be observed in sufferers include:

  • Instability when walking.
  • Decrease the inability
  • There is an increase in arches in the soles of the feet (scoliosis pes cavus), or other deformations in the legs, such as clubfoot.
  • Visual impairment.
  • Hearing disorders.
  • Weak muscles.
  • Reduced limb reflexes.
  • Lack of coordination between limbs.
  • It's hard to feel vibrations or movements in the legs and

Often Friedreich's ataxia sufferers also suffer from heart problems, especially hypertrophic cardiomyopathy (thickening of the heart muscle tissue). Other diseases that can appear in Friedreich's ataxia patients are optic nerve atrophy, diabetes mellitus, peripheral cyanosis, and edema.

The appearance of the symptoms of Friedreich's ataxia generally occurs at an early age, especially seen from the instability of the patient when walking, standing, or running. When Friedreich's ataxia develops at a later stage, this disease will affect other limbs, especially the hands. Friedreich's ataxia that develops on the hand will cause tremors. In addition, this tremor can also appear on the muscles of the arms, body, and face.

In an advanced stage of Friedreich's sufferer, the feet and soles will feel weak, making it difficult to walk. The weakening of the legs will continue to become paralytic and the patient must use a wheelchair or just lie in bed. The weakening of the limbs will also occur in the hand, although weakening of the hand often occurs after paralysis of the foot.

After Friedreich's ataxia in patients entering the final stage, dysarthria (difficulty speaking) and dysphagia (difficulty swallowing) can occur due to nerve disorders on the face. In addition, patients with end-stage ataxia can also experience weakness in the facial muscles and mouth muscles. The difficulty of coordination between talking, breathing, swallowing and laughing can cause sufferers to choke when talking.

Generally, the average life expectancy of Friedreich's ataxia sufferers is 40-50 years, but it can vary depending on the severity of the condition. Paralysis and loss of walking ability generally occur 15 years after being diagnosed. Arrhythmias and heart failure are the main causes of death in patients with Friedreich's ataxia.

Causes of Friedrich ataxia

Friedrich sufferers have FXN gene mutases. This gene functions for the production of frataxin, an important protein that works for the function of mitochondria (parts of cells for energy production) cells.

At Friedrich's ataxia, there is degeneration of the spinal cord and peripheral nerves so that the nerves become thinner. There is also degeneration of the cerebellum, which is the part of the brain that functions to coordinate balance and movement.

This disease is inherited by autosomal recessive. That is, symptoms of the disease will appear if there are two copies of the FXN gene that have mutations (from each parent). If only one copy of the FXN gene has a mutation and one other copy is normal, a person is said to be a career. The carrier from Friedrich's ataxia will not show symptoms.

Friedreich's ataxia Diagnosis

The diagnosis of Friedreich's ataxia involves several fairly complex examinations. Examination methods that can be used to confirm the presence of Friedreich's ataxia include:

  • Review of medical history, especially related to the possibility of an inner ataxia gene carrier
  • Examination of physical condition. This examination is to assess the condition of the nerves and muscles of the sufferer. Based on the World Federation of Neurology recommendations, the things that must be assessed in this examination are as follows:
  • Walking ability.
  • Walking speed.
  • Ability to stand with eyes open. The test can be done by standing using one leg. If you can't, you can use both feet.
  • The ability to spread legs with eyes open then measured the width between the two legs.
  • The ability to stabilize the body in the event of a shock.
  • Stability in sitting position.
  • Kinetic function.
  • The ability to speak, including fluency and clarity in speaking.
  • Eyeball movement.
  • Nerve conduction examination. This test serves to measure the speed of stimulation of nerves through nerve vessels. This test can provide information if there is damage to nerve tissue. During the test, a pair of electrodes will be placed on a particular part of the skin. One of the electrodes functions as a stimulant, while the other electrode serves as a catcher for nerve stimulation. The speed of conduction or delivery of stimuli to the skin is then measured and analyzed. In Friedreich ataxia patients, the results of motor nerve conduction studies provide motor nerve stimulation rates above 40 m / s. Whereas in sensory nerve conduction, there is generally no recorded speed.
  • Electrocardiography (ECG). This examination serves to analyze nerve stimulation conditions in the heart. The ECG results in patients with Friedreich's ataxia usually show ventricular hypertrophy and T-wave inversion.
  • This test aims to get a picture of the heart condition by using sound waves. The results of the echocardiographic analysis in Friedreich's ataxia patients can show ventricular hypertrophy, septal hypertrophy, and hypertrophic cardiomyopathy.
  • The MRI scan in patients with Friedreich's ataxia is focused on the brain and spine. In patients with Friedreich's ataxia, atrophy can be found, especially in the spinal cord of the neck.

Genetic examination in children with families who have a risk and a history of Friedreich's ataxia can be done from before birth. In addition, genetic testing in prospective married couples, especially with a history of Friedrich ataxia in the family, can also be done. The aim is to predict the possibility of the appearance of Friedreich's ataxia in the next offspring of the couple.

Friedreich's Ataxia Treatment

Keep in mind that Friedreich's ataxia cannot be cured. Therefore, the treatment is intended to overcome the symptoms that appear. Friedreich's ataxia will get worse over time. After 15-20 years, various symptoms of Friedreich's ataxia will appear in patients so they have to rely on a wheelchair to move. Often sufferers also experience heart disease which can be a cause of death.

The treatment of Friedreich's ataxia is done by involving various specialists, especially neurologists, geneticists, and physiotherapy doctors. During treatment, an annual review is carried out to monitor the condition of nerves, heart, muscles, and bones, as well as other organ systems. Treatment of the symptoms of Friedreich's ataxia is still focused on antioxidant therapy. Some other types of drugs that can be given include:

  • Pioglitazone
  • Erythropoietin
  • Deferiprone
  • Histone deacetylase inhibitors
  • Peroxisome proliferator-activated receptor gamma (PPAR-γ) agonist.

Supporting treatments that can be given to sufferers of Friedreich's ataxia to help control the symptoms that arise include:

  • Physiotherapy
  • Occupational therapy.
  • Treatment of heart failure and arrhythmias. If needed, a heart transplant can be performed on Friedreich's ataxia sufferer.
  • Insulin to help treat diabetes-related to Friedreich's ataxia.
  • Speech therapy.
  • Counseling and antidepressant drugs to treat depression due to Friedreich's ataxia.

To deal with pes cavus scoliosis in the legs of Friedreich's ataxia sufferers, surgery can be done. In addition to surgery, deformity in the legs can also be handled using botox. In people with ataxia who experience cold feet or cyanosis peripherals, passive training methods can be given to overcome the condition.

Symptoms of sphincter dysfunction (muscle valves that regulate the body's channels) must be monitored and can be treated using oxybutynin. In patients who experience sexual dysfunction, it can be treated using treatment for sexual dysfunction as usual. If dysphagia appears in patients, modification of patterns and types of food can be done, or a gastrostomy is performed.



1. John Hopkins Medicine. Health Library. Nerve Conduction Study.

2. Burk, K. (2017). Friedreich Ataxia: Current Status and Future Prospects. Cerebellum & Ataxias.

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