Friedreich's ataxia, also known as FA and FRDA, is an inherited disease causing nervous system damage and movement difficulties. Typically beginning in childhood, Friedreich’s ataxia leads to degrading muscle coordination over time. Friedreich’s ataxia affects the spinal cord and peripheral nerves. The brain’s cerebellum, which controls balance and movement, also degrades. This damage results in unsteady movements and impaired sensory functions. The condition also causes problems in the heart and spine, and some develop diabetes. The disorder does not affect intellect. Friedreich’s ataxia is caused by a mutation in the gene, FXN. The condition is recessive, only occurring when someone inherits two copies of the gene, one from each parent. Although rare, Friedreich’s ataxia is the most common form of hereditary ataxia, affecting about one in every 50,000 people in the United States. Both male and female children can inherit the disorder. The condition is named after Nicholaus Friedreich, the German doctor who first documented the condition in the 1860s.
Friedreich’s ataxia symptoms typically begin between the ages of five and 15 years of age. However, they can appear in adulthood, as late as age 75. The first symptom is often difficulty walking. Then, it gradually worsens, slowly spreading to the arms and the trunk. There is often loss of sensation in the extremities, which may spread to other parts of the body. Other features include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which often requires surgical intervention for treatment. Slowness and slurring of speech develops and worsens, and individuals with later stages of Friedreich’s ataxia may develop hearing and vision loss. Speed of progression varies from person to person. Typically, within 10 to 20 years after the first symptoms, the person needs a wheelchair, and in later stages of the disease, individuals may become completely incapacitated.
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Diagnosing Friedreich's ataxia requires clinical examination, including a medical history and a thorough physical exam, looking for balance difficulty, loss of joint sensation, absence of reflexes, and signs of neurological problems. Currently, genetic testing provides conclusive diagnosis.
Many of the symptoms and accompanying complications of Friedreich’s ataxia can be treated to help individuals maximize function as long as possible. Orthopedic problems such as foot deformities and scoliosis can be corrected with braces or surgery. Physical therapy may prolong use of the arms and legs. Advances in understanding the genetics of Friedreich's ataxia are leading to breakthroughs in treatment. Research has moved forward to the point where clinical trials of proposed treatments are presently occurring for Friedreich’s ataxia.
The symptoms of Friedreich's ataxia can shorten life expectancy, especially when heart disease is a factor. However, some people with less severe cases of Friedreich's ataxia live full lifespans.
People living with Friedreich’s ataxia may experience progressive changes in balance, coordination, strength, and endurance that can significantly affect mobility and daily activities over time. Quantum Rehab® offers advanced power mobility solutions designed to accommodate complex physical needs offering safe mobility, seating stability, fatigue reduction, and access solutions for coordination changes, while supporting greater independence, accessibility, and participation in everyday life. They can be configured with individualized seating, positioning, and control systems to help address the unique challenges associated with Friedreich’s ataxia.
TRU-Balance® 4 Power Positioning Systems can support the postural and endurance needs often associated with Friedreich's ataxia. Power tilt, anterior tilt, recline, elevating leg rests, adjustable seat elevation, and programmable seating positions may help with pressure redistribution, fatigue management, trunk support, circulation, and functional reach. These features can be especially helpful when a user needs stable positioning for daily activities, communication, meals, school, work, or community access.
Quantum Q-Logic 3 electronics allow the drive and access system to be adjusted around coordination and motor-control needs. Drive profiles, joystick sensitivity, specialty controls, switches, head controls, Bluetooth®, and environmental controls can help the wheelchair remain usable as fine motor control changes. Quantum power wheelchairs provide a flexible mobility platform for Friedreich's ataxia, with seating and electronics that can be customized over time through a clinical evaluation. By combining adaptable design, advanced rehabilitation technology, and personalized configuration options, Quantum power wheelchairs are engineered to support long-term comfort, mobility, and independence for individuals living with Friedreich’s ataxia.
Please click here for more information on Quantum Power Chair solutions for those living with Friedreich’s ataxia.
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