Is Friedreich’s Ataxia?
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.
“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 affects approximately 1 in every 40,000
Although there’s no cure for Friedreich’s ataxia, there are
several treatments available to help you cope with the symptoms.
Are the Symptoms of Friedreich’s Ataxia?
Friedreich’s ataxia can be diagnosed between ages 2 to the early
50s, but it’s most commonly diagnosed between ages 10 to 15. Difficulty with
walking is the most common initial symptom of the condition. Other symptoms
- 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
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.
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 frataxin. Normally this gene will cause your body to
produce up to 30 copies of a specific DNA sequence. When your body’s production
of this DNA sequence spirals out of control, severe damage to your brain’s
cerebellum and your spinal cord can result.
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.
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
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.
Is Friedreich’s Ataxia Treated?
Friedreich’s ataxia can’t 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.
Is the Long-Term Outlook?
Over time, Friedreich’s ataxia becomes worse. About 15 to 20
years after symptoms emerge, many people with Friedreich’s ataxia 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
Friedreich’s ataxia. It usually becomes fatal by early adulthood. People with
mild ataxia symptoms generally live longer.
Friedreich’s ataxia leads to diabetes in about 10
percent of people who have it. Other complications include heart failure,
scoliosis, and difficulty digesting carbohydrates.
Friedreich’s Ataxia Be Prevented?
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.