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Friedreich’s Ataxia. Almaz Mesghina 4 th  Period
What is it? <ul><li>Friedreich’s Ataxia (or FA) is a very rare, genetic, recessive disease, affecting 1/50,000 people. </l...
What Causes It? <ul><li>Mutations in the frataxin gene (located on chromosome 9) cause FA. Frataxin, a protein, stores unn...
What are its Symptoms? <ul><li>Friedreich’s Ataxia may cause: </li></ul><ul><ul><ul><li>Loss of coordination </li></ul></u...
What are WE doing? <ul><li>Medications or cures have not been found. </li></ul><ul><li>But, patients with FA can help trea...
Real-Life Story <ul><li>Andrew Ashby, currently 36, was diagnosed with FA when he was 27. His whole life, he noticed he wa...
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Friedreich’s Ataxia

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A slideshow for an Honors Biology assignment.

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Friedreich’s Ataxia

  1. 1. Friedreich’s Ataxia. Almaz Mesghina 4 th Period
  2. 2. What is it? <ul><li>Friedreich’s Ataxia (or FA) is a very rare, genetic, recessive disease, affecting 1/50,000 people. </li></ul><ul><li>Originates from mutations in the “coding” of the mitochondria. </li></ul><ul><li>Discovered by Nicholaus Friedreich in the early 1860’s. </li></ul><ul><li>Both parents must have the dominant trait for a 25% chance of an offspring possessing the disease. </li></ul><ul><li>Not necessarily a disease that kills you, but eventually a wheelchair and regular assistance will be required. </li></ul>
  3. 3. What Causes It? <ul><li>Mutations in the frataxin gene (located on chromosome 9) cause FA. Frataxin, a protein, stores unneeded iron (releasing it only when necessary) and controls the amount of iron in our mitochondria, which require iron to produce ATP. Without frataxin, iron will float freely in the mitochondria, and when too much iron is left in the mitochondria, oxidative-stress (the buildup of harmful oxygen-based free radicals) occurs. The oxidative-stress damages the mitochondria, therefore, the ATP production drastically slows down. The absence of frataxin destroys the nervous system (including the [peripheral] nerves, sense of feeling, and spinal cord) and decreases the amount of energy for the tissues and organs. </li></ul>
  4. 4. What are its Symptoms? <ul><li>Friedreich’s Ataxia may cause: </li></ul><ul><ul><ul><li>Loss of coordination </li></ul></ul></ul><ul><ul><ul><li>Muscle weakness </li></ul></ul></ul><ul><ul><ul><li>Spine curving (aggressive scoliosis) </li></ul></ul></ul><ul><ul><ul><li>Vision impairment </li></ul></ul></ul><ul><ul><ul><li>Slurred/slowed speech </li></ul></ul></ul><ul><ul><ul><li>Diabetes </li></ul></ul></ul><ul><ul><ul><li>Heart disorders </li></ul></ul></ul><ul><ul><ul><li>& Foot abnormalities </li></ul></ul></ul>
  5. 5. What are WE doing? <ul><li>Medications or cures have not been found. </li></ul><ul><li>But, patients with FA can help treat the symptoms. Small steps/changes like using a cane can lessen the impact of Friedreich’s Ataxia a lot. </li></ul><ul><li>Also, Vitamin E helps to slow down the progression, as well as eating healthy food and getting plenty of exercise. </li></ul><ul><li>Not a lot of study is going towards FA, since it is a rare mutation. But scientists are trying to learn more about it and work to find a cure. </li></ul>A brace can help adjust the spine.
  6. 6. Real-Life Story <ul><li>Andrew Ashby, currently 36, was diagnosed with FA when he was 27. His whole life, he noticed he was a little more clumsy than everyone else. As he grew older, simple tasks like picking up a pencil or even walking down the stairs became increasingly difficult. He visited his doctor, and started physiotherapy to help strengthen his knees and improving his walking. Physiotherapy produced no results. After quitting the therapy, his symptoms worsened. His speech became slower and slurred. Then, he visited the doctor again. With the new symptoms, Andrew was sent to a neurologist who finally discovered the cause, he had Friedreich’s Ataxia. </li></ul>

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