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Adrenoleukodystrophy (X-ALD)

Adrenoleukodystrophy (X-ALD). Also known as: Siemerling-Creutzfeldt Disease or Schilder's disease. Adrenoleukodystrophy damages the white matter of the brain, making it almost impossible to break down very-long-chain fatty acids. 1 in 20,000 chance of inheriting ALD. Symptoms

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Adrenoleukodystrophy (X-ALD)

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  1. Adrenoleukodystrophy(X-ALD) Also known as: Siemerling-Creutzfeldt Disease or Schilder's disease. Adrenoleukodystrophy damages the white matter of the brain, making it almost impossible to break down very-long-chain fatty acids.

  2. 1 in 20,000 chance of inheriting ALD Symptoms • Changes in muscle tone, especially muscle spasms and spasticity • Strabismus (Crossed eyes) • Aphasia (Decreased understanding of verbal communication) • Deterioration of handwriting • Difficulty at school • Difficulty understanding spoken material • Hearing loss • Hyperactivity • Worsening nervous system deterioration • Coma • Decreased fine motor control • Paralysis • Seizures • Swallowing difficulties • Visual impairment or blindness ALD is most common in men, of all ethnicities. That’s not to say women can’t get it, only 1 out of 5 women who are carriers so symptoms though.

  3. It’s only a matter of time About 2 years after neurological symptoms develop, The child can live for as long as 10 years until death occurs. The child will usually die by the age of 12. Treatment is available , there is no cure. But treatment could possibly expand your life time by a few years. The treatment is taking special oils that lower the blood levels of very-long-chain fatty acids.

  4. Dealing with ALD Test and diagnostics Support groups CLIMB (Children Living with Inherited Metabolic Diseases) Support groups for families going through this is also available, online. www.alds.org.au/ald.htm Female carriers can be diagnosed 85% of the time using a very-long-chain fatty acid test and a DNA probe study done by specialized laboratories. You can get this done any time before attempting pregnancy.

  5. Interesting facts • There are three different types of ALD you can get: Adrenoleukodystrophy Adrenomyeloneuropathy Schilder-Addison Complex • The bottom two are acquired usually in your mid 20’s but usually is not deadly. And no mental problems are developed form these two. • Adreno(adrenal gland)-leuko(white)-dys(abnormal)-trophy(growth)

  6. References Johnston MV. Neurodegenerative disorders of childhood. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 599. https://health.google.com/health/ref/Adrenoleukodystrophy

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