ADRENOLEUKODYSTOPHY
Adrenoleukodystrophy (ALD) is a genetic condition that damages the membrane (myelin sheath) that covers nerve cells in the brain and spinal cord. Myelin acts as insulation around the nerve fibers. When this insolating layer is damaged, nerve signals from the brain cannot communicate across the body properly, causing impaired bodily functions or paralysis.
How is ALD inhertited?
ALD is a genetic condition that may be inherited from one or both parents. ALD most severely affects males when it can either present during childhood or during adulthood. Women who are carriers for ALD develop a milder form of the disease during adulthood.
How does it affect that person?
The most devastating form of ALD appears in childhood, generally between the ages of four and ten years old. Normal, healthy boys suddenly begin to regress. At first, they simply show behavioral problems, such as withdrawal or difficulty concentrating. Gradually, as the disease ravages their brain, their symptoms grow worse, including blindness and deafness, seizures, loss of muscle control, and progressive dementia. This relentless downward spiral leads to either death or permanent disability, usually within 2 to 5 years from diagnosis.
Can ALD be cured?
ALD has no cure. However, stem cell transplantation may stop the progression of ALD if done when neurological symptoms first appear
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