FRIEDREICH'S ATAXIA (FA)
Friedreich’s ataxia is an inherited disease that causes progressive damage to the nervous system but does not affect cognitive function.
The disease progresses until a wheelchair is required for mobility. Its incidence in the general population is roughly 1 in 50,000.
The ataxia of Friedreich’s ataxia results from the degeneration of nervous tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath (the insulating covering on some nerve cells that helps conduct nerve impulses).
The condition is named after the German physician Nikolaus Friedreich, who first described it in the 1860s.
Signs & Symptoms
Symptoms typically begin sometime between the ages of 5 to 15 years, but in Late Onset FA may occur in the 20s or 30s. Symptoms include any combination, but not necessarily all, of the following:
- Muscle weakness in the arms and legs
- Loss of coordination
- Vision impairment
- Hearing impairment
- Slurred speech
- Curvature of the spine (scoliosis)
- High plantar arches (pes cavus deformity of the foot)
- Diabetes (about 20% of people with Friedreich’s ataxia develop carbohydrate intolerance and 10% develop diabetes mellitus)
- Heart disorders (e.g., atrial fibrillation, and resultant tachycardia (fast heart rate) and hypertrophic cardiomyopathy)
It presents itself before 25 years of age with progressive staggering or stumbling gait and frequent falling. Lower extremities are more severely involved. The symptoms are slow and progressive. Long-term observation shows that many patients reach a plateau in symptoms in the patient’s early adulthood. On average, after 10–15 years with the disease, patients are usually wheelchair bound and require assistance with all activities of daily living.
How Friedreich’s Ataxia is Inherited
A person suffering from Friedreich’s Ataxia may require some surgical interventions (mainly for the spine and heart). Often, titanium screws and rods are inserted in the spine to help prevent or slow the progression of scoliosis. As progression of ataxia occurs, assistive devices such as a cane, walker, or wheelchair are required for mobility and independence. Other assistive technology, such as a standing frame, can help reduce the secondary complications of prolonged use of a wheelchair. The goal of surgery is to keep the patient ambulatory as long as possible.
In many cases, patients experience significant heart conditions as well. These conditions are much more treatable, and are often countered with ACE inhibitors such as enalapril or lisinopril and other heart medications such as digoxin.
Persons with Friedreich’s ataxia may also benefit from a conservative treatment approach for the management of symptoms. Health professionals educated in neurological conditions, such as physical therapists and occupational therapists, can prescribe an exercise program tailored to maximize function and independence. To address the ataxic gait pattern and loss of proprioception typically seen in persons with Friedreich’s ataxia, physical therapists can use visual cueing during gait training to help facilitate a more efficient gait pattern. The prescription of an assistive device along with gait training can also prolong independent ambulation.
Low intensity strengthening exercises should also be incorporated to maintain functional use of the upper and lower extremities. Fatigability should be monitored closely. Stabilization exercises of the trunk and low back can help with postural control and the management of scoliosis. This is especially indicative if the person is non-ambulatory and requires the use of a wheelchair. Balance and coordination training using visual feedback can also be incorporated into activities of daily living. Exercises should reflect functional tasks such as cooking, transfers and self-care. Along with gait training, balance and coordination training should be developed to help minimize the risk of falls.
Stretching exercises can be prescribed to help relieve tight musculature due to scoliosis and pes cavus deformities.
Friedreich’s ataxia. (2016, May 26). In Wikipedia, The Free Encyclopedia. Retrieved 16:11, June 5, 2016, from https://en.wikipedia.org/w/index.php?title=Friedreich%27s_ataxia&oldid=722255612
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FARA’s Mission is to marshal and focus the resources and relationships needed to cure FA by raising funds for research, promoting public awareness, and aligning scientists, patients, clinicians, government agencies, pharmaceutical companies and other organizations dedicated to curing FA and related diseases.
The Friedreich’s Ataxia Research Alliance (FARA) is a national, public, 501(c)(3), non-profit, tax-exempt organization dedicated to the pursuit of scientific research leading to treatments and a cure for Friedreich’s ataxia. Learn more at curefa.org.