Degenerative disease Friedreich's Ataxia

Friedreich's ataxia is a degenerative neurological disease that affects the nervous system and heart. Friedreich's ataxia is genetic and is inherited via autosomal chromosomes with recessive genes. This disease is associated with cardiomyopathy (heart muscle disorders) and diabetes.

Friedreich's ataxia was identified by Nikolaus Friedreich in 1863. The gen that causes it was discovered in 1996.

Nerve degeneration due to Friedreich's ataxia will cause :

• It's hard to walk.
• Loss of taste.
• Loss of control of hand and foot movements.
• It's hard to speak.

Until now, Friedreich's ataxia is not treatable. Treatment only aims to control the symptoms that appear. Friedreich's ataxia is progressive and can cause death.

Symptoms.

The symptoms of Friedreich's ataxia appear before the age of 20, such as :

• Instability when walking.
• Arches in the soles of the feet (scoliosis pes cavus).
• Clubfoot.
• Visual disturbances.
• Hearing disorders.
• Weak muscles.
• Reduced limb reflexes.
• Lack of coordination of limbs.
• Difficulty feeling vibrations or movements in the limbs.
• Heart disorders, especially hypertrophic cardiomyopathy (thickening of the heart muscle tissue).

Other diseases that can arise due to Friedreich's ataxia :

• Optic nerve atrophy.
• Diabetes mellitus.
• Peripheral cyanosis.
• Edema.

Cause.

Friedreich's ataxia is caused by mutations in chromosome number 9, primarily in the gene encoding the protein Frataxin. Frataxin is a protein that regulates iron ion levels in mitochondria. Mutations in the Frataxin gene can disrupt the balance of iron ion levels in cells, then result in impaired mitochondrial function and cell damage, especially nerve cells and heart cells.

Nerve cells and tissues suffer the earliest and most severe damage. Sensory nerve damage (disorders of the proprioceptive system) : a system that processes information from the muscles and joints of the body so that it understands where the body is and its body movements.

A person who has a family history of Friedreich's ataxia has a higher risk of developing this disease. If only one parent has Friedreich's ataxia in a family, the offspring can carry the gene for the disease, but have no symptoms.

Diagnosis.

The diagnosis of Friedreich's ataxia is a fairly complex examination.

• Medical history of the Ataxia gene carrier.
• Physical examination to determine the condition of the patient's nerves and muscles.
• Ability to walk.
• Walking speed.
• The ability to stand with your eyes open.
• Ability to stabilize the body in case of shocks.
• Stable sitting position.
• Kinetic function.
• Speaking ability.
• Eyeball movement.
• Nerve conduction studies.
• Electrocardiography (EKG) to analyze the condition of nerve stimulation in the heart.
• Echocardiography to determine the condition of the heart using sound waves.
• RI is focused on the brain and spine.

Treatment.

Friedreich's ataxia cannot be cured. Friedreich's ataxia will get worse with time. After 15-20 years, various symptoms of Friedreich's ataxia will appear in sufferers, so they have to rely on wheelchairs to move. Often sufferers also experience heart disease which can be a cause of death. An annual review is performed to monitor the condition of the nerves, heart, muscles, bones and other organ systems.

Treatment of the symptoms of Friedreich's Ataxia is still focused on antioxidant therapy. Types of drugs that can be given :

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

Supportive medications to help control symptoms :

• Physiotherapy.
• Occupational therapy.
• Treatment of heart failure and arrhythmias.
• Heart transplant if needed.
• Insulin to help treat diabetes.
• Talk therapy.