Friedreich's Ataxia Syndrome

Picture of a boy sitting in a wheel chair.

• Friedreich's ataxia syndrome (also termed spinocerebellar degeneration) is a rare genetic disease that causes problems with the nervous system, leading to impaired movement. 
• Ataxia is a medical term that refers to abnormal muscle coordination.
• The condition causes unsteady movements and typically worsens over time.
• Some people with the condition also have problems with the heart or develop diabetes. Intellectual function is not affected.

Symptoms and signs of Friedreich's ataxia syndrome usually start when the person is between 5 and 15 years of age, although some people might not develop symptoms until adulthood. 

Early symptoms of Friedreich's ataxia syndrome include:

• Balance problems
• Gait disturbances (difficulty walking)
• Problems speaking

With time, symptoms of Friedreich's ataxia syndrome syndrome spread to involve other muscles, often causing muscle spasticity and curvature of the spine (scoliosis). 

Other associated symptoms of Friedreich's ataxia syndrome syndrome can include:

• Difficulty swallowing
• Loss of normal reflexes
• Loss of sensation in the arms and legs
• Vision changes
• Related to heart problems such as palpitations and heart rhythm disturbances. 

The rate at which the symptoms progress or worsen over time varies among affected people.

Friedreich's ataxia syndrome is caused by a mutation or defect in the gene known as FXN, which leads to the production of a protein called frataxin. The condition is inherited in an autosomal recessive manner, meaning that peoples who must inherit two defective copies of the gene, one from each parent, to develop the disease.  Both males and females can be affected by Friedreich's ataxia syndrome.

Genetic testing for the mutation in the FXN gene can provide the definitive diagnosis. Other tests to measure nerve and muscle function are also sometimes used to establish the diagnosis, including an electromyogram (EMG), which measures the electrical activity of muscle cells, and nerve conduction studies, which measure the speed of nerve signaling. Imaging tests such as CT or MRI scans may be used to rule out other causes of the symptoms.

There is currently no effective treatment or cure for Friedreich's ataxia syndrome, and the symptoms cannot be reversed. Treatments are directed at improving quality of life and managing symptoms. For example, heart problems can be treated with medication, and orthopedic complications such as deformities and scoliosis can be corrected with surgery or bracing. Physical therapy, speech therapy, and hearing aids may be useful for some people with the condition.  

As discussed previously, the rate at which the symptoms worsen varies among affected people. Most people are confined to a wheelchair within 10 to 20 years after the appearance of the first symptoms. Later in the disease, those affected may become incapacitated. Friedreich's ataxia syndrome can shorten life expectancy, but some people with less severe symptoms live into their sixties or older. The most common cause of death is heart disease.

Research efforts on Friedreich's ataxia syndrome focus on many different aspects of the disease, including the exact cause of the FXN gene mutation, better understanding the function of frataxin, and examining possible ways to overcome the genetic mutation that could contribute to treatments for the disease.