FRIEDREICH DISEASE Meaning and
Definition
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Friedreich's disease, also known as Friedreich's ataxia, is a rare, progressive, inherited neurological disorder that primarily affects the nervous system and muscles. Named after the German physician Nikolaus Friedreich, who first described the condition in 1863, it is a degenerative disease that usually appears in childhood or adolescence.
Friedreich's disease is caused by a genetic mutation that leads to a deficiency of the protein frataxin, which is essential for mitochondrial function. This deficiency results in the degeneration of nerve tissue in the spinal cord and the cerebellum, leading to symptoms such as muscle weakness, loss of coordination, and impaired balance.
Individuals with Friedreich's disease often experience difficulty walking, the development of abnormal foot arches, and eventual loss of mobility. Other common symptoms include limb curvature (scoliosis), heart complications (such as enlarged heart or cardiomyopathy), impaired speech, hearing loss, and diabetes.
The progression of Friedreich's disease varies from person to person, and in some cases, it may lead to a significant decline in overall health and life expectancy. There is currently no cure for Friedreich's disease; however, management of symptoms and supportive care can help improve the quality of life for affected individuals. Treatment options may include physical therapy, speech therapy, medications to control symptoms, and assistive devices to aid movement. Ongoing research is focused on developing potential therapies to slow the progression of the disease and alleviate its symptoms.
Common Misspellings for FRIEDREICH DISEASE
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Etymology of FRIEDREICH DISEASE
The term "Friedreich's disease" is named after Nikolaus Friedreich, a German physician and pathologist who first described the condition in 1863. Friedreich's disease is a hereditary degenerative disorder of the nervous system that primarily affects muscle coordination and movement.
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