Adrenoleukodystrophy Health Article

Other treatments

Research is being done with other treatments such as lovastatin and 4-phenylbutyrate, both of which may help lower VLCFA levels in cells, but more work is necessary to determine their effectiveness. Gene therapy, a possible method of treatment, works by replacing, changing, or supplementing non-working genes. Although different gene therapy methods are being testing on animals, they are not ready for human trials.

Other types of therapy and supportive care are of benefit to both affected boys and their families. Physical therapy can help reduce stiffness and occupational therapy can help make the home more accessible. Support from psychologists and other families who have been or are in a similar situation can be invaluable. Many men with AMN lead successful personal and professional lives and can benefit from vocational counseling and physical and occupational therapy.

Prenatal diagnosis

Prenatal testing to determine whether an unborn child is affected is possible if a specific ALD mutation has been identified in a family. This testing can be done at 10–12 weeks gestation by a procedure called chorionic villus sampling (CVS) which involves removing a tiny piece of the placenta and examining the cells. It can also be done by amniocentesis after 14 weeks gestation by removing a small amount of the amniotic fluid surrounding the baby and analyzing the cells in the fluid. Each of these procedures has a small risk of miscarriage associated with it and those who are interested in learning more should check with their doctor or genetic counselor. Couples interested in these options should have genetic counseling to carefully explore all of the benefits and limitations of these procedures.

An experimental procedure, called preimplantation diagnosis, allows a couple to have a child that is unaffected with the genetic condition. This procedure is only possible for those families in which a mutation in the ALD gene has been identified. Those interested in learning more about this procedure should check with their doctor or genetic counselor.

Prognosis

The prognosis for people with ALD varies depending on the type of ALD. Those diagnosed with childhood ALD usually have a very rapid course. Symptoms usually progress very fast and these children typically become completely incapacitated and die within three to five years of the onset of symptoms.

The symptoms of AMN progress slowly over decades. Most affected individuals have a normal lifespan.

PERIODICALS

Laan, L. A. E. M., et al. "Childhood-onset cerebral X-linked adrenoleukodystrophy." The Lancet 356 (November 4, 2000): 1608–1609.

Moser, H. W., et al. "Therapy of X-linked adrenoleukodystrophy: Prognosis based upon age and MRI abnormality and plans for placebo-controlled trials." Journal of Inherited Metabolic Disease 23 (2000): 273–277.

Moser, H. W. "Treatment of X-linked adrenoleukodystrophy with Lorenzo's oil." Journal of Neurology, Neurosurgery and Psychiatry 67, no. 3 (September, 1999): 279–280.

Shapiro, E., et al. "Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleuko-dystrophy." The Lancet 356, no. 9231 (August 26, 2000): 713–718.

Suzuki, Y., et al. "Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophy." Journal of Inerited Metabolic Disease 23, no. 5 (July 2000): 453–458.

Unterrainer, G., B. Molzer, S. Forss-Petter, and J. Berger. "Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy." Human Molecular Genetics 9, no. 18 (2000): 2609–2616.

van Geel, B. M., et al, on behalf of the Dutch X-ALD/AMN Study Group. "Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with 'Lorenzo's oil.'" Journal of Neurology, Neurosurgery and Psychiatry 67, no. 3 (September 1999): 290–299.

Verrips, A., et al. "Simvastatin and plasma very long chain fatty acids in X-linked adrenoleukodystrophy." Annals of Neurology 47, no. 4 (April 2000): 552–553.

ORGANIZATIONS

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. <http://www.rarediseases.org>.

United Leukodystrophy Foundation. 2304 Highland Dr., Sycamore, IL 60178. (815) 895-3211 or (800) 728-5483. Fax: (815) 895-2432. <http://www.ulf.org>.

WEBSITES

"Entry 300100: Adrenoleukodystrophy; ALD." OMIM—Online Mendelian Inheritance in Man. <http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300100>.

Moser, Hugo W., MD, Ann B Moser, MD, and Corinne D Boehm, MS. "X-Linked Adrenoleukodystrophy." (March 9, 1999). University of Washington, Seattle. GeneClinics. <http://www.geneclinics.org/profiles/x-ald/>.

Karen M. Krajewski, MS, CGC