1 / 10

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.

powa
Download Presentation

Friedreich’s Ataxia

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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.

More Related