Adrenoleukodystrophy (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
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.
• Changes in muscle tone, especially muscle
spasms and spasticity
• Strabismus (Crossed eyes)
• Aphasia (Decreased understanding of verbal
• 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
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 verylong-chain fatty acids.
Dealing with ALD
Test and diagnostics
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
Support groups
CLIMB (Children Living with Inherited
Metabolic Diseases)
Support groups for families going through
this is also available, online.
Interesting facts
• There are three different types of ALD you can get:
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)
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.