Fried
Friedreich's Ataxia
Friedreich's Ataxia (pronounced: free-dryks uh-tak-see-uh) is a rare genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impaired speech. It is the most common form of hereditary ataxia, affecting approximately 1 in 50,000 people in the United States.
Etymology
The disease is named after the German physician Nikolaus Friedreich, who first described the condition in the 1860s.
Symptoms
The symptoms of Friedreich's Ataxia can vary widely from person to person, but they typically include:
- Gait abnormalities: Difficulty walking is the most common symptom. This usually begins with unsteadiness and progresses to a need for assistive devices such as a wheelchair.
- Dysarthria: This refers to slurred and slow speech that can be difficult to understand.
- Sensory ataxia: This is a loss of sense of body position and can lead to uncoordinated movements and a high risk of falls.
- Heart problems: Many people with Friedreich's Ataxia develop heart disease, particularly cardiomyopathy.
Causes
Friedreich's Ataxia is caused by a mutation in the FXN gene, which provides instructions for producing a protein called frataxin. Frataxin is essential for the normal function of mitochondria, the energy-producing centers of cells. A shortage of this protein can lead to the buildup of iron in mitochondria, which can damage cells and lead to the symptoms of Friedreich's Ataxia.
Treatment
There is currently no cure for Friedreich's Ataxia. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, speech therapy, and medications to manage heart disease and diabetes.
See also
External links
- Medical encyclopedia article on Fried
- Wikipedia's article - Fried
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