What is Friedreich’s ataxia?
“Ataxia” means lack of order. There are a number of types of ataxia with a number of causes. Friedreich’s ataxia is one type of this condition.
Friedreich’s ataxia is a rare genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impaired speech. It’s also known as spinocerebellar degeneration. The disease causes damage to parts of your brain and spinal cord and can also affect your heart.
The illness typically begins with difficulty walking. People with Friedreich’s ataxia develop clumsy, shaky movements of the legs (called gait ataxia) during childhood or early adolescence. In rare cases, symptoms appear in infants and in middle-aged adults. As the disease gets worse, people may develop bony deformities of the spine and feet, loss of sensation in the limbs, speech problems, abnormal eye movements, heart disease and diabetes.
How common is Friedreich’s ataxia?
Friedreich’s ataxia can affect patients at any age. It can be managed by reducing your risk factors. Please discuss with your doctor for further information.
What are the symptoms of Friedreich’s ataxia?
Difficulty with walking is the most common initial symptom of the condition. Other symptoms include:
- Vision changes
- Loss of hearing
- Weak muscles
- Lack of reflexes in your legs
- Poor coordination or lack of coordination
- Speech problems
- Involuntary eye movements
- Foot deformities, such as clubfoot
- Difficulty sensing vibrations in your legs and feet
Many people with this condition also have some form of heart disease. Approximately 75 percent of people with Friedreich’s ataxia have heart abnormalities. The most common type is hypertrophic cardiomyopathy, a thickening of the heart muscle. The symptoms of heart disease include heart palpitations, chest pain, and shortness of breath. Friedreich’s ataxia can eventually lead to diabetes.
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Friedreich’s ataxia?
Friedreich’s ataxia is a genetic defect that’s inherited from both parents by what’s called “autosomal recessive transmission.” The disease is linked to a gene called FXN. Normally this gene will cause your body to produce up to 33 copies of a specific DNA sequence. In people with Friedreich’s ataxia, this sequence may repeat 66 to over 1,000 times, according to U.S. National Library of Medicine’s Genetics Home Reference. When production of this DNA sequence spirals out of control, severe damage to the brain’s cerebellum and the spinal cord can result.
What increases my risk for Friedreich’s ataxia?
People with a family history of Friedreich’s ataxia are at greater risk of inheriting this disease. If the defective gene is only passed down from one parent, the person becomes a carrier of the disease but usually doesn’t experience symptoms of it.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Friedreich’s ataxia diagnosed?
Your doctor will look at your medical history and perform a complete physical exam. This will include a detailed neuromuscular exam. The exam will focus on checking for problems with your nervous system. The signs of damage include poor balance, lack of reflexes, and lack of sensation in your joints.
Your doctor may also order a CT scan and MRI of your brain and spinal cord. An MRI shows images of your body’s inner structures. A CT scan produces pictures of your bones, organs, and blood vessels. You might also have regular X-rays of your head, spine, and chest taken.
Genetic testing can show if you have the defective frataxin gene that causes Friedreich’s ataxia. Your doctor might also order electromyography to measure the electrical activity in your muscle cells. A nerve conduction study may be done to see how quickly your nerves send impulses.
Your doctor might want you to have an eye exam to check your optic nerve for signs of damage. In addition, your doctor may do echocardiograms and electrocardiograms to diagnose heart disease.
How is Friedreich’s ataxia treated?
Friedreich’s ataxia can’t be cured. Treatment focuses on relieving symptoms, keeping the condition from getting worse and prolonging life. Treatment may include:
- Physical therapy and occupational therapy
- Bracing or surgery to correct bony deformities – If scoliosis is severe, surgery is usually done at a relatively early age (if possible), because heart disease that typically develops later in the illness makes the operation more dangerous later on.
- Medication for heart disease – Medications such as beta blockers and ACE inhibitors are often used to treat the symptoms of the heart disease related to this condition. Also, there is some evidence that these medications might slow down the progressive worsening of heart failure.
- Antioxidant substances, such as vitamin E, coenzyme Q10, and idebenone may potentially delay disease progression.
- Treatment to lower blood sugar – This includes a modified diet, together with oral anti-diabetic drugs or insulin.
There’s no way to prevent Friedreich’s ataxia. Since the condition is inherited, genetic counseling and screening are recommended if you have the disease and plan on having children. A counselor can give you an estimate of your child’s chances of having this disease or carrying the gene without showing symptoms.
Lifestyle changes & Home remedies
What are some lifestyle changes or home remedies that can help me manage Friedreich’s ataxia?
Lifestyle changes such as diet and exercise can improve cardiovascular health in patients with Friedreich ataxia.
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Friedreich's Ataxia. http://www.health.harvard.edu/diseases-and-conditions/friedreichs-ataxia. Accessed 10 Jan 2017
Friedreich's Ataxia. http://www.healthline.com/health/friedreichs-ataxia#Symptoms2. Accessed 10 Jan 2017
Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695710/. Accessed 10 Jan 2017
Review Date: June 16, 2017 | Last Modified: June 16, 2017