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Friedreich’s Ataxia

Friedreich’s Ataxia. Jessica Mallie Kristin Penland. Origin. Friedreich’s Ataxia: spinocerebellar degeneration Discovered by German physician Nikolaus Friedreich in 1863 Inherited. Introduction. a debilitating degenerative neuro-muscular disorder inherited genetically

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Friedreich’s Ataxia

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  1. Friedreich’s Ataxia Jessica Mallie Kristin Penland

  2. Origin • Friedreich’s Ataxia: spinocerebellar degeneration • Discovered by German physician Nikolaus Friedreich in 1863 • Inherited

  3. Introduction • a debilitating degenerative neuro-muscular disorder • inherited genetically • occurs in 1 in 50,000 people in the United States • onset varies between children and adults: childhood onset between ages 5-15 and is associated with rapid progression • Under the umbrella term of Ataxia meaning an uncoordinated movement due to a muscle control problem that causes an inability to coordinate movements • Different types • Spinocerebellar • Episodic • Friedreichs • Ataxia-telangiectasia • Congenital cerebellar ataxia

  4. Cause • Defect in the gene Frataxin on chromosome 9 • causes the body to make more of a trinucleotide (GAA) • Frataxin is essential for the proper function of the mitochondria and negatively impacts the nerve and muscle cells

  5. Symptoms • loss of coordination in the arms and legs • fatigue, energy deprivation and muscle loss • vision impairment, hearing loss and slurred speech • aggressive scoliosis • diabetes from glucose intolerance (10%-20%) • enlarged heart- hypertrophic cardiomyopathy

  6. Treatment • Counseling • Speech therapy • Physical therapy • Walking aids/wheelchairs • Treatment for heart disease and diabetes

  7. Prognosis • average lifespan 30-40 years old • most common cause of death is from cardiac disease and diabetes

  8. Research • Friedreich’s Ataxia Research Alliance was created by patients and three scientists, Dr. Rob Wilson, Dr. Bronya Keats, and Dr. Massimo Pandolfo in 1998. • Discovered the gene that causes FA and have funded drug and clinical trials

  9. https://www.youtube.com/watch?v=ThMH3WCUU4A

  10. Works Cited “About Fara”. FARA: Friedreich’s Ataxia Research Alliance. FARA, 2014. Web. 30 April 2014. “Diseases and Conditions: Ataxia”. Mayo Clinic. Mayo Foundation for Medical Education and Research, 2014. Web. 30 April 2014. “FA - Friedreich’s Ataxia”. FA - Friedreich’s Ataxia. Durhamtechs.com 2009. Web. 29 April 2014. “Friedreich’s Ataxia”. PubMed Health. National Center for Biotechnology Information, US National Library of Medicine. 12 Nov. 2012. Web. 29 April 2014. “Research & Medical Professionals”. Friedreich’s Ataxia Research Alliance. FARA, 2014. Web. 29 April 2014.

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