The differences are many when you read the article. The central nervous system is a marvelous thing and you can appreciate its many functions even more when they dwindle. It is easy to take for granted the complexity of the human mind and body when everything is in working order. This is the age old complaint about young people levelled by those of advanced years... youth is wasted on the young.
Friedreich's ataxia (also called FA or FRDA) is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time.
The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s.
In Friedreich’s ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent.
This damage results in awkward, unsteady movements and impaired sensory functions.
The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes.
The disorder does not affect thinking and reasoning abilities (cognitive functions).
Friedreich’s ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent.
Although rare, Friedreich’s ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. Both male and female children can inherit the disorder.
The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s.
In Friedreich’s ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent.
This damage results in awkward, unsteady movements and impaired sensory functions.
The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes.
The disorder does not affect thinking and reasoning abilities (cognitive functions).
Friedreich’s ataxia is caused by a defect (mutation) in a gene labeled FXN. The disorder is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent.
Although rare, Friedreich’s ataxia is the most common form of hereditary ataxia, affecting about 1 in every 50,000 people in the United States. Both male and female children can inherit the disorder.
Can Friedreich's ataxia be cured or treated?
As with many degenerative diseases of the nervous system, there is currently no cure or effective treatment for Friedreich's ataxia.
However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Doctors can prescribe treatments for diabetes, if present; some of the heart problems can be treated with medication as well.
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.
However, many of the symptoms and accompanying complications can be treated to help individuals maintain optimal functioning as long as possible. Doctors can prescribe treatments for diabetes, if present; some of the heart problems can be treated with medication as well.
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.
SouceLink:
Friedreich's Ataxia Fact Sheet: National Institute of Neurological Disorders and Stroke (NINDS)
http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm
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