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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Women Carriers of ALD Women carriers of ALD can experience symptoms similar to men with adult ALD. Symptoms vary in women, but may include walking difficulties, numbness and tingling of feet and toes, and bladder or bowel symptoms. It is rare to see cerebral disease or adrenal insufficiency in women with ALD. Symptom management is the focus. Addison’s Disease At some point, most boys and men with ALD will develop Addison’s Disease (adrenal insufficiency). Although this condition can be life threatening if untreated, it can be managed with a daily intake of steroids. If Addison’s is identified, patients must be closely monitored by an endocrinologist. Treatment Options Unfortunately, treatments for ALD are limited, but recommended treatment options include Lorenzo’s Oil, bone marrow transplant, and exercise and physical therapy. Lorenzo’s Oil Lorenzo’s Oil has been successfully used as a therapy for boys with ALD. If started early, it can help to lessen the risk of developing the childhood cerebral form of ALD. This oil, along with the use of a low-fat diet, can help to reduce the very long chain fatty acids that accumulate in ALD. Lorenzo’s Oil is not approved by the FDA and is available only as an investigational drug used under supervision of a clinical trial here at Kennedy Krieger.
Potential side effects include gastrointestinal issues, elevation in liver functions, and a low platelet count. Therapy needs to be supervised by a physician. Benefits to adults with AMN are unknown.
Bone Marrow Transplant Bone marrow transplant is used to treat boys with early signs of ALD. Once early brain MRI changes are identified, evaluation for transplant is an option. Although this procedure is considered risky, successful transplants are possible with early intervention. Outcomes depend on the child’s clinical status at the time of evaluation, along with interpretation of the brain MRI. Only about 30 to 35 percent of boys who undergo transplant will go on to develop childhood cerebral disease. A bone marrow transplant may be a treatment option for adults, although risk increases with age. Exercise and Physical Therapy Patients who experience walking difficulties may benefit from seeing a physical therapist, who can provide exercises to strengthen muscles and improve walking ability.
Contact Information: Adrenoleukodystrophy (ALD) at Kennedy Krieger Institute If you or a family member has been diagnosed with Adrenoleukodystrophy and would like further information, please contact us at 443-923-2750. TTY: 443-923-2645 or Maryland Relay 711 707 N. Broadway Baltimore, Maryland 21205 www.genetics.kennedykrieger.org
OTHER RESOURCES www.ulf.org www.clinicaltrials.gov www.x-ald.nl/ www.myelin.org
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