Friedreich’s ataxia is an inherited degenerative neurological disorder that involves damage to the cerebellum, spinal cord and peripheral nerves. The disease results in various symptoms such as gait disturbance and speech problems, heart disease and diabetes. Health problems associated with Friedreich’s ataxia result because of the damage to the peripheral nerves, responsible to carry signals from brain and spinal cord to muscles. Most commonly, first symptoms appear between the ages of 5 and 15. In some patients, symptoms are visible as early as 18 months or as late as 30 years. General prognosis for Friedreich’s ataxia is usually hard to establish, as the progression of disease varies from patient to patient. However, patients are most likely to rely on a wheelchair within 15 years of the appearance of symptoms. If the disease affects heart muscle, patient’s life span may drastically shorten.
Symptoms of Friedreich’s ataxia
First symptom of ataxia includes difficulty walking. This is a progressive disease, and the symptoms are gradually worsening over time, affecting the arms and trunk. This usually manifests as general clumsiness or deterioration in athletic performance. Patient’s muscles are becoming weaker and they waste over time resulting in deformities. Deformities are particularly visible in patient’s feet, legs and hands. One of the associated symptoms is a loss of joint position and vibration sense in the lower limbs. The curvatures of the spine can also develop as a result of training the other muscles that don't typically move that way. Other symptoms include slow or slurred speech, fatigue, rapid and involuntary eye movements, and heart diseases such as heart enlargement and heart failure. Approximately 20 percent of patients with Friedreich’s ataxia will develop carbohydrate intolerance.
Treatment of Friedreich’s ataxia
There is no special treatment for ataxia, except of the medicine approved in Canada, called idebenone. In both the United States and in Europe there are two Phase III clinical trials on-going with idebenone. FDA has denied the distribution of idebenone in 2009, and discontinued the clinical trials. A person suffering from Friedreich's Ataxia will usually use adaptive devices such as canes or walkers, modified utensils for eating and communication aids for speaking. Wheelchair or a standing frame is also required for mobility and independence. Therapy may also include physical therapy to help build strength and enhance patient’s mobility, occupational therapy to help the patient with daily tasks, and speech therapy to improve verbal expression and swallowing. To treat associated heart problems, doctors will usually prescribe ACE inhibitors such as enalapril or lisinopril and other heart medications such as digoxin.
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