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's named after the German physician Nikolaus Friedreich, who first described the condition in the 1860s.

Etymology

The term "Friedreich's ataxia" is derived from the name of its discoverer, Nikolaus Friedreich, and the Greek word "ataxia" (αταξία), which means "lack of order" and is commonly used in medicine to refer to coordination problems.

Symptoms

The symptoms of Friedreich's ataxia can include:

• Difficulty walking (Gait abnormality)
• Loss of sensation in the arms and legs (Peripheral neuropathy)
• Impaired speech (Dysarthria)
• Heart disease, particularly heart failure and arrhythmia
• Diabetes (Diabetes mellitus)

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 within cells. The mutation in the FXN gene leads to a decrease in frataxin, which ultimately leads to the symptoms of Friedreich's ataxia.

Diagnosis

Diagnosis of Friedreich's ataxia involves a thorough clinical evaluation, detailed patient history, and specialized tests such as genetic testing to detect mutations in the FXN gene.

Treatment

There is currently no cure for Friedreich's ataxia. Treatment is supportive and aimed at relieving symptoms and improving quality of life. This can include physical therapy, speech therapy, and medications to manage heart disease and diabetes.

See also

• Ataxia
• Genetic disorder
• Neurodegenerative diseases

External links

• Medical encyclopedia article on Friedreich's ataxia
• Wikipedia's article - Friedreich's ataxia

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