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Friedreich’s Ataxia

Dhanise Pagulayan and Keenan McKenna . Friedreich’s Ataxia. Origin. named after German physician Nikolaus Friedreich Discovered this inherited form of ataxia in 1860s Ataxia : greek a - {negative/lacking} + - taxia {order} = lack of order . Introduction.

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Friedreich’s Ataxia

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  1. Dhanise Pagulayan and Keenan McKenna Friedreich’s Ataxia

  2. Origin • named after German physician Nikolaus Friedreich • Discovered this inherited form of ataxia in 1860s Ataxia: greeka-{negative/lacking} + -taxia {order} = lack of order

  3. Introduction • Inherited, progressive nervous system disorder • Causes loss of balance/coordination • Autosomal recessive disease

  4. Friedreich’s Ataxia: sensory and cerebellar • Most common inherited ataxia • Affects 3,000-5,000 people in U.S. • 1-2 per 50,000 individuals Different types of Ataxia: • Cerebellar - dysfunction of cerebellum. Cerebellum  coordination of smooth/fluid movements • Sensory– loss of sense of position of body parts. • Can be caused by dysfunction of other parts of brain (ex: cerebellum) • Vestibular – dysfunction of vestibular system  contributes to movement and sense of balance

  5. Cause • Two abnormal genes inherited • Protein gene (frataxin) on chromosome 9 takes abnormal form and ends with repeats of amino acid glutamate - known as “triple repeat” • Frataxin sequence normally repeats 10-21 times; in FA sequence may repeat 200-900 times - More repeats = more severe

  6. Symptoms • Appear between ages 8-15 • walking incoordination • Arm incoordination (after several years) • Decreased hand-eye coordination • Speech/swallowing difficulties • Diabetes may occur • Loss of visual accuracy/hearing loss • scoliosis • Heartbeat abnormalities in majority of patients

  7. Treatment • Surgical Intervention- Titanium Rods and Screws inserted into the spine to slow progression of scoliosis. • Assistive devices- Walkers, canes, wheelchairs • Heart Medications- Enalapril or Lisinopril, Digoxin • PT & OT • No Cure or direct Medical Treatment for FA

  8. Prognosis • About one in 50,000 people in the United States have Friedreich's ataxia. • 15-20 years within first symptoms, person is usually confined to wheelchair • Later Stages become completely incapacitated • Death in 50’s common • With proper care, patient can live into their 60’s

  9. Research • FARA- Friedrichs Ataxia Research Alliance • NAF- National Ataxia Foundation • Want to use stem cells to rebuild neuro- muscular cells

  10. Works Cited • "FARA." The Friedreich's Ataxia Research Alliance. FARA, 2014. Web. 28 Apr. 2014. • “Friedreich Ataxia (FA).” Pediatrics Clerkship. The University of Chicago, 2013. Web. 26 Apr. 2014. • Hum, Am J. “Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency.” The American Journal of Human Genetics. National Center for Biotechnology Information, U.S. National Library of Medicine, 2001. Web. 28 Apr. 2014. • Kaneshiro, Neil K. “Autosomal Recessive.” A.D.A.M. Inc., 2013. Web. 26 Apr. 2014.

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