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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.
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.
Many with Friedreich’s ataxia experience the progressive loss of the ability to walk, necessitating the use of a power wheelchair. Quantum Rehab®, the global leader in individualized power chairs, puts an emphasis on mobility technologies specific toward the needs of those with Friedreich’s ataxia.
Quantum Power Chairs incorporate power adjustable seating for user repositioning and comfort; specialty drive controls, including using a single finger or one’s head to operate the power chair; and, a highly-adaptable design to meet an individual’s current and future needs.
Quantum Power Chairs feature the latest advanced technologies to increase the independence of those living with Friedreich’s ataxia. iLevel® seat elevation technology allows a user to operate the power chair at seated or standing height. Bluetooth® is also integrated into Quantum’s Q-Logic 3 electronics, so those with Friedreich’s ataxia can operate much of their environment with the power chair drive control, itself.
For those with Friedreich’s ataxia, Quantum Power Chairs are designed to provide optimal medical comfort and maximum independence. Please click here for more information on Quantum Power Chair solutions for those living with Friedreich’s ataxia.
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