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Adrenoleukodystrophy

Adrenoleukodystrophy. Its one of the biggest words you’ll ever see. What is it?.

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Adrenoleukodystrophy

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  1. Adrenoleukodystrophy Its one of the biggest words you’ll ever see

  2. What is it? • Adrenoleukodystrophy or ALD, also called Siemerling-Creutzfeldt Disease or Schilder's is a uncommonly rare disease. It is an inherited disorder primarily found in boys that leads to progressive brain damage, failure of the adrenal glands and eventually death

  3. Backround information • A genetic disorder is a disease/disorder that is inherited from one parent or both. This also means that your children can receive it or become a carrier from you

  4. Why it is lethal • Adrenoleukodystrophy progressively damages the myelin in the brain • There is also a shortage of white matter in the brain later on causing the brain cells to malfunction

  5. Symptoms • Loss of neurologic abilities • Seizures • Lack of mussel co0rdnation • Decreased auditory and visual function

  6. leukodystrophy • People with adrenoleukodystrophy demonstrate marked loss of developing white matter, with reduced amounts and increased intensity. The frontal white matter is spared. Features that are consistent with X-linked adrenoleukodystrophy.

  7. other leukodystrophies • Leukodystrophy refers to a group of disorders characterized by progressive degeneration of the white matter of the brain. Others include: • Adrenomyeloneuropathy • Metachromatic leukodystrophy • Krabbe disease • Pelizaeus–Merzbacher disease

  8. Possible treatment • Lorenzo Michael Murphy Odone who lived from May 29, 1978 – May 30, 2008, was probably the most famous patient with ALD. His frustrated by the limited treatment available which in turn, sparked the invention of "Lorenzo's oil", which may have been and still may be the only treatment to ALD

  9. Can it be diagnosed while in fetus? • Yes it can be diagnosed in the fetus • Bone marrow transplant can be given when the child is young. • Some therapies help manage the symptoms of ALD.

  10. Statistics • 1 in 20,000 people in the united states are diagnosed with Adrenoleukodystrophy.

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