Adrenoleukodystrophy (ALD) at Kennedy Krieger Institute A guide for diagnosing and treating ALD, answers to commonly asked questions, and resources available to families and medical professionals. About ALD Adrenoleukodystrophy (ALD) is a rare, genetic disorder characterized by the breakdown or loss of the myelin sheath – the fatty covering – surrounding nerve cells in the brain, and progressive dysfunction of the adrenal gland. ALD primarily affects males and occurs in about one out of every 17,000 births. This disease was made famous by the movie “Lorenzo’s Oil,” which offers a glimpse inside the world of a family stricken with ALD. Inheritance The ALD gene can be passed on to a child from either the mother or the father. If a father passes the gene, then all of his daughters will be carriers, but sons will not have the ALD gene. If a mother passes the gene, there is a 50 percent chance with each pregnancy that the child, whether a boy or a girl, will have the ALD gene. Genetic counseling is strongly encouraged. Testing Options For males, testing is easy and can be completed in seven to ten business days. The test used to diagnose ALD, called the “very long chain fatty acid test,” is definitive for males. For females, that same test is only 80 percent accurate, so further DNA testing is needed for confirmation. Prenatal testing is available, with options including chorionic villi sampling (CVS) and amniocentesis. In addition, there are in-vitro fertilization options to ensure that babies do not have the ALD gene. A genetic counselor can discuss these options with you. For test requisitions, see www.genetics.kennedykrieger.org.
Newborns with ALD If a child is born with the ALD gene, no immediate intervention is suggested. Babies can be breastfed or given regular formula. Monitoring for adrenal insufficiency should begin by age 18 months and should include yearly MRIs of the brain. In the near future, Kennedy Krieger hopes to have newborn screening for ALD included in standard newborn tests for babies born in each state. Childhood Presentation Onset of the classic childhood form of ALD, which is the most severe, affects only boys and generally develops between the ages of 4 and 8 years. Early symptoms can be similar to those of attention deficit disorder, such as difficulty paying attention, mild confusion or forgetfulness, or difficulty in school, all potential signs that the brain has been affected by ALD. If untreated, the symptoms may progress to inability to walk, talk, or eat, and could eventually lead to death. Children need to be monitored by brain MRIs every six to twelve months in order to identify early signs of disease progression. Adult Presentation: Adrenomyeloneuropathy (AMN) In adult onset, symptoms typically are seen as early as 20 years old and then throughout adulthood. The adult presentation includes spinal cord symptoms, as well as difficulty walking, muscle spasms, peripheral neuropathy (numbness or tingling in the feet and legs), and possible bladder or bowel symptoms. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function, which can be monitored by MRIs.
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