Student Work ALD

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Student Work ALD

  1. 1. By Kate Tolstykh Freddy Rojas Sergio Tomita
  2. 2. What is Adrenoleukodystrophy? <ul><li>A rare, X-chromosome linked genetic disease passed from a parent to the child </li></ul><ul><li>Adreno refers to the adrenal glands </li></ul><ul><li>Leuko refers to the white matter of the brain </li></ul><ul><li>Dystrophy is a disorder </li></ul>
  3. 3. Who is affected? <ul><li>Affects approximately 1 in 20,000 males from </li></ul><ul><li>all races </li></ul>
  4. 4. What are the causes? <ul><li>Long- chain fatty acids build up in the nervous system, adrenal glands, and testes, and disrupt regular body activity </li></ul><ul><li>ALD can be detected through a special blood test that can reveal the presence of very high levels of very long chain fatty acids. </li></ul>
  5. 5. What happens? <ul><li>The build-up of the very long-chain fatty acids causes the loss of myelin in the brain. </li></ul><ul><ul><ul><li>Myelin – a phospholipid protective layer that surrounds the axon of a nerve cell </li></ul></ul></ul>
  6. 6. What happens next? <ul><li>Due to demyelination, white matter of the brain goes through progressive neurological deterioration </li></ul><ul><li>Myelin sheath is stripped from brain’s nerve cells, reducing in brain’s activity </li></ul><ul><li>Neurons are not able to tell muscles and other central nervous system what to do </li></ul>
  7. 7. What are the categories? <ul><li>Childhood cerebral form – children at ages 4 – 8 </li></ul><ul><li>Adrenomyelopathy – men in their twenties </li></ul><ul><li>Addison disease – adrenal glands do not produce enough steroid hormones </li></ul>
  8. 8. Childhood cerebral type symptoms <ul><li>Adrenal problems </li></ul><ul><li>Changes in muscle tone </li></ul><ul><li>Crossed eyes </li></ul><ul><li>Decreased understanding of verbal communication </li></ul><ul><li>Deterioration of handwriting </li></ul><ul><li>Difficulty at school </li></ul><ul><li>Difficulty understanding spoken material </li></ul><ul><li>Hearing loss </li></ul><ul><li>Hyperactivity </li></ul><ul><li>Progressive nervous system deterioration </li></ul><ul><ul><li>Coma </li></ul></ul><ul><ul><li>Decreased fine motor control </li></ul></ul><ul><ul><li>Paralysis </li></ul></ul><ul><li>Seizures </li></ul><ul><li>Swallowing difficulties </li></ul><ul><li>Visual impairment or blindness </li></ul>
  9. 9. Adrenomyelopathy symptoms <ul><li>Adrenal problems </li></ul><ul><li>Difficulty controlling urination </li></ul><ul><li>Possible worsening muscle weakness or leg stiffness </li></ul><ul><li>Problems with thinking speed and visual memory </li></ul>
  10. 10. Addison type symptoms <ul><li>Coma </li></ul><ul><li>Decreased appetite </li></ul><ul><li>Increased skin pigmentation </li></ul><ul><li>Loss of weight, muscle mass </li></ul><ul><li>Muscle weakness </li></ul><ul><li>Vomiting </li></ul>
  11. 11. What is the cure for ALD? <ul><li>A specific treatment for ADL is not available, therefore a cure hasn’t been found yet </li></ul><ul><li>If ALD is present since birth, the patient will die by age of 1 to 5. </li></ul><ul><li>Otherwise, death usually occurs within 1 to 10 years after the onset of symptoms. </li></ul><ul><li>There are exceptions, however, and most men with the adult-onset form of ALD can maintain successful personal and professional lives. </li></ul>
  12. 12. What are the treatments? <ul><li>Usually patients with adrenal problems are treated with hormones </li></ul><ul><li>Bone marrow transplant is also being tested as a cure </li></ul><ul><li>A product called Lorenzo’s oil is tested, but has not proven yet to cure the disease </li></ul><ul><ul><ul><ul><ul><li>Named for the son of the family who discovered this treatment, the oil is supposed to reduce the levels of long-chain fatty acids </li></ul></ul></ul></ul></ul>
  13. 13. How can it be prevented? <ul><li>Genetic counseling is recommended for prospective parents with a family history of X-linked adrenoleukodystrophy. </li></ul><ul><li>Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by amniocentesis. </li></ul><ul><ul><ul><ul><ul><li>Amniocentesis is procedure performed by inserting a hollow needle through the abdominal wall into the uterus and withdrawing a small amount of fluid from the sac surrounding the fetus </li></ul></ul></ul></ul></ul>
  14. 14. Works used <ul><li>www.nlm.nih.gov/medlineplus/ency/article/001182.htm </li></ul><ul><li>www.umm.edu/ency/article/001182.htm </li></ul><ul><li>rarediseases.about.com/cs/ald/a/041301.htm </li></ul><ul><li>www.aldfoundation.org </li></ul><ul><li>www.ulf.org/types/XALD.html </li></ul><ul><li>www.stopald.org/ald/whatisald.asp </li></ul><ul><li>http://www.medfriendly.com/adrenoleukodystrophy.php5 </li></ul>

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