Augusto Odone New Investigator Award for AMN research 

TREATING THE OTHER FACE OF X-ALD

Most of the visitors to this website know something about X-ALD. This genetic disease affects about one-third of boys who carry the X-ALD gene, causing loss of most normal neurologic functions within one or two years. Fewer than 20 years ago, X-ALD was invariably fatal. Thanks, in part, to The Myelin Project, substantial progress has been made in treating X-ALD. The day is near when the final work on a newborn screening test will be complete. The test will enable doctors to identify all boys who carry the X-ALD gene. Treating pre-symptomatic boys with Lorenzo’s Oil significantly reduces the chances that X-ALD will develop. For those boys who develop symptoms despite Lorenzo’s Oil therapy, there remains the option of a bone marrow or cord blood transplant. While still risky, the success rates of bone marrow transplantation have improved significantly in recent years.  

Many visitors to this website have not even heard of AMN. This disorder affects the other two-thirds of the males and about one-half of the females who carry the X-ALD gene. AMN is part of the complex of diseases caused by mutations in the ALD gene. In an affected family in which two boys have the same mutation, one may develop ALD and die early, while the other may remain asymptomatic until his 20’s when he develops AMN. X-ALD and AMN have quite different symptoms. AMN is characterized by loss of spinal cord and peripheral nerve function resulting in stiffness, ataxia, weakness to paralysis and sometimes cognitive defects showing that in some men with AMN, the brain is also involved.

In men, symptoms of AMN most often develop between 20 and 30 years of age, when they are just beginning to build a career and start a family. Women become symptomatic later in life, in their 40’s or 50’s, and while the symptoms are usually less severe than men with AMN, they can be serious and debilitating.