Friedreichs ataxia is a rare genetic disease that causes difficulties walking, loss of sensation in the arms and legs, and impaired speech. It is also known as spinocerebellar degeneration. The disease causes damage to parts of your brain and spinal cord, and can also affect your heart.
“Ataxia” is a word with Greek roots, and literally means “lack of order.” There are a number of types of ataxia with a number of causes; Friedreichs ataxia is one type of this problem.
According to the National Institute of Neurological Disorders and Stroke (NINDS), Friedreichs ataxia affects approximately one in every 50,000 people. (NINDS)
Although Friedreichs ataxia has no cure, there are several treatments available to help you cope with the symptoms.
Friedreichs ataxia is a genetic defect inherited by both parents. The disease is linked to a gene called frataxin. Normally this gene will cause your body to produce up to 30 copies of a specific DNA sequence. When your bodys production of this DNA sequence spirals out of control, severe damage to your brains cerebellum and your spinal cord can result.
People with a family history of Friedreichs 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 does not experience symptoms of it.
Symptoms of Friedreichs ataxia can start when you are as young as 18 months old and as late as 30 years old. They typically appear between 5 and 15 years of age. Late-onset Friedreichs ataxia occurs in people who are 25. Very late-onset Friedreichs ataxia begins after age 40. A difficulty walking is typically the first sign of this disease. Other symptoms include:
Some people with this condition also have some form of heart disease. Approximately 66 percent of people with Friedreichs ataxia have hypertrophic cardiomyopathy, a thickening of the heart muscle. Symptoms of heart disease include heart palpitations, chest pain, and shortness of breath. Later on, Friedreichs ataxia may lead to diabetes.
Your doctor will give you a complete physical exam and look over your medical history. The exam will focus on checking for problems with your nervous system. Signs of damage include poor balance, a lack of reflexes, and lack of sensation in your joints.
Your doctor may also do a CT scan and MRI of your brain and spinal cord. An MRI shows images of your bodys 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 Friedreichs ataxia. Your doctor might also order electromyography to measure your 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 also 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.
Friedreichs ataxia cannot be cured. Your doctor will treat underlying conditions and symptoms instead. Physical therapy and speech therapy can help you function. You may also require walking aids to help you move around. Braces and other orthopedic devices or surgery might be necessary if you develop a curved spine or problems with your feet. Medications may be used to treat heart disease and diabetes.
Over time, Friedreichs ataxia becomes worse. About 15 to 20 years after symptoms emerge, many people with Friedreichs ataxia usually have to rely on a wheelchair. Those who have advanced ataxia might not be able to get around at all. Heart disease is the leading cause of death among people with Friedreichs ataxia. It usually becomes fatal by early adulthood. People with mild ataxia symptoms generally live longer.
Friedreichs ataxia leads to diabetes in about 10 percent of people, according to NINDS. (NINDS) Other complications include heart failure, scoliosis, and difficulties digesting carbohydrates.
There is no way to prevent Friedreichs ataxia. Since the condition is inherited, genetic counseling and screening is recommended if you plan on having children. A counselor can give you an estimate of your childschances of having this disease or carrying it without showing symptoms.