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It is essential to diagnose ALD as early as possible. All
the evidence indicates that the two currently available treatments for the
disease -- Lorenzo's oil and stem cell transplantation -- only work during a very
narrow window either before symptoms develop, or very early after their onset.
Once the disease has progressed and symptoms have become severe, there are
currently no treatments that can replace the lost myelin and the only treatments
available are palliative.
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It is very difficult to differentiate ALD from other conditions, such as ADHD, epilepsy, autism, and other learning disabilities, particularly if you are not aware that a genetic predisposition to the disease runs in your family. However, if you notice some of the following things, be sure that your child's physician is considering the possibility of ALD -- especially if you have a family history of neurological problems:
Some key clues that should alert physicians to consider the possibility of ALD include:
Physicians may consider referring to the following table when ALD is included as a differential diagnosis:
Adapted from Ievers CE, Brwon RT, McCandles SE et al. J Dev Behavior Pediatrics. 1999;20(1):31-35.
Read the MediView Report, Avoiding the Misdiagnosis of Adrenoleukodystrophy: Distinguishing ALD from ADD/ADHD.
Once ALD is suspected, there are two tests that must be done: a blood test and a brain scan. The blood test analyzes the amount of very long chain fatty acids, which are elevated in ALD. This test has the highest degree of accuracy in males; however, it can sometimes miss the presence of the mutated gene in women who are carriers of the disease.
If the blood test suggests ALD, a magnetic resonance imaging scan (MRI) will be performed to determine if the disease has begun to do damage to the brain. Lesions on the brain caused by the destruction of the myelin will appear on MRI before any neurological or psychological symptoms appear. The MRI scan will produce something called a Loes score, which rates the severity of the damage to the brain on a scale from 0 to 34. A score of 0.5 or less is normal; a score of 14 or more indicates severe ALD.
When a child is diagnosed with ALD, among the first questions many families ask are "Are our other children at risk?" or "Can we safely have more children?" Genetic testing is the only way to answer that question. DNA-based blood tests can accurately identify both women who are carriers of the gene, and boys and young men who have ALD and may not yet be showing symptoms.
Research shows that screening not just the parents and siblings of boys with ALD, but extended family members as well, is the best way to detect the disease at a time when treatment can be beneficial.
Although it is not currently feasible to screen all pregnant women for the ALD mutation, prenatal tests and genetic counseling are available to help families plan their pregnancies and avoid passing the ALD gene on to their children.
Amniocentesis and chorionic villus sampling (CVS) can both detect the ALD abnormality, but only if testing laboratory or physician is specifically looking for it.
Doctors can contact the Kennedy Krieger Institute to request genetic testing.
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