Friedreich’s Ataxia – St. Jude Children’s Research Hospital

[ad_1]

Friedreich’s ataxia is often called FA. It is a rare hereditary neurodegenerative disease. It affects the nerves, spinal cord and part of the brain called the cerebellum. FA causes a slow, continuous loss of muscle coordination and balance, called ataxia. It also affects speech and causes weakness and loss of sensation. Over time, FA can affect heart function.

FA occurs in about 1 in 50,000 people and affects both men and women.

Cause of Friedreich’s Ataxia

Friedreich’s ataxia is hereditary. This means that it is transmitted from parent to child. It is caused by changes in a gene called FXN which creates a protein called Frataxin. Frataxin helps cells produce energy. When a person has FA, their body produces less frataxin. Doctors can find this genetic change with a genetic test.

Signs and Symptoms of Friedreich’s Ataxia

Symptoms of FA usually begin when a person is between 5 and 15 years old. In some cases, symptoms may develop later in life. If symptoms begin in childhood, the disease usually progresses more quickly. Symptoms usually start in the legs, then move to the trunk and arms.

Your child may have some or all of these symptoms:

  • Difficulty walking and poor balance
  • Slowness and speech disorders
  • Scoliosis, a curvature of the spine
  • Weakness in the legs and hands
  • Mild to severe heart problems
  • Hearing loss
  • Vision changes
  • Diabetes

People with FA often need assistive devices such as walkers, wheelchairs, or scooters to stand or move around. They may also have heart, spine, hearing, sight and bladder problems.

Friedreich’s ataxia doesn’t seem to affect the part of the brain that controls thinking and learning.

How Friedreich’s Ataxia Is Diagnosed

Your health care provider does a detailed exam to find out if your child has FA. They take a medical history and do a neurological exam. Your provider is looking for balance issues, reduced joint sensation, slow reflexes, and signs of nerve problems. Other tests may include:

  • Electromyogram: measures the electrical activity of muscle cells
  • Nerve conduction test: measures how quickly nerves send messages
  • Blood tests
  • Tests and pictures of your child’s heart
  • Imaging tests such as MRIs or CT scans
  • Genetic test to find the gene responsible for this disease

How Friedreich’s Ataxia Is Treated

FA currently has no FDA-approved cure or treatment. But your healthcare team can help your child manage their symptoms and use their arms and legs for as long as possible.

Your child needs regular follow-up with his healthcare team. This team probably includes a neurologist, a cardiologist and an endocrinologist. If your child has scoliosis, he may need follow-up by an orthopedic surgeon.

Other members of the care team may include:

  • A physical therapist to help create an exercise plan and monitor range of motion.
  • An occupational therapist to help with assistive devices and communication aids. They can also help you organize your home to identify and eliminate hazards.

Researchers are studying treatments for FA. Some are directed at the genetic problem itself. Some drugs have shown promise. Talk to your healthcare team about these treatments. You can also talk to your healthcare team if you want to participate in a research study.

Living well with Friedreich’s ataxia

Like other neurodegenerative diseases, FA progresses over time. The way it develops is different for each person. Your healthcare team helps your child maintain function and limit symptoms as much as possible. They help decide on the best treatments to maintain quality of life as the disease affects your child’s body. It is very important to watch for heart problems or diabetes.

Friedreich’s ataxia does not affect the part of the brain that controls thinking, learning, and cognition, but it is important to watch for symptoms of depression. Many people live full and rewarding lives with this condition.

[ad_2]
Source link