Fight ALD
A d r e n o l e u k o d y s t r o p h y
Adrenomyeloneuropathy, (AMN), is the adult onset of ALD and affects both men and women. Approximately 50% of patients with the ALD gene defect will develop AMN symptoms and according to NORD (the National Association of Rare Diseases), even in the absence of therapy it is more common than the severe childhood form of the illness.
Once believed to only affect males, females with the gene were simply referred to as carriers and were not expected to be at risk of developing symptoms. It has now been determined to be as prevalent among women as it is men and that all will be symptomatic at some point in their lives.
The affected gene has been identified as the ABCD1 gene which is passed on through the X-chromosome. Women carry two copies of their X, one of which is affected. They have a 50% chance of passing their bad X to all of their children. Men have only one X and will always pass the gene to their daughters but never to their sons.
Symptoms often begin later in life for women. Statistics show that 50% of women will have symptoms by the age of 45. Chances increase by 10% each additional decade of their lives. Men on the other hand can have symptoms as early as their late teens or early twenty’s with cerebral involvement most commonly occuring between 35 and 50. They also tend to experience a more rapid progression of the disease. As with ALD boys, a large percentage of men have adrenal insufficiency (addison’s disease) which can be treated with steroids. Recent statistics show that 20-50% of women will
too. Some women may suffer from adrenal fatigue rather than full blown Addison’s and may get some relief by taking an adrenal supplement. I have met many AMN women who have thyroid problems and although the correlation of this hasn’t been studied or acknowledged by medical professionals, I suspect it may be discovered to be a component of the disease in future studies.
Symptomatic adults should be monitored through annual MRI’s of the brain and spine as well as have nerve conduction tests to track the progression of the disease.
Often neurological disability is slowly progressive over several decades and involves the myelin sheath of the spinal column. According to the Australian Leukodystrophy Support Group, Inc. web-site, while mental function may be entirely preserved, approximately half of AMN patients do develop cerebral changes at some time during the course of the illness and then may show rapid neurological progression. Major manifestations are adrenal impairment, varying degrees of difficulty with walking due to spasticity, urinary disturbances and impotence and sometimes cognitive defects, emotional disturbances and depression.
AMN is most commonly misdiagnosed as Multiple Sclerosis, degenerative disc disease, debilitating arthritis and unknown brain disease when there has been no known family history of ALD. Once a correct diagnosis is made it will often be traced to numerous other family members across generations.
As with ALD, there is no known cure for AMN at this time. Many patients are treated with medications to manage their symptoms. A study utilizing bone marrow transplant (BMT) in treating adult males with cerebral involvement was conducted in Germany. It was noted that this procedure is strictly used to address the inflammatory process in the brain, not AMN symptoms. They do believe that some men with cerebral involvement benefit from the procedure but caution that there is a higher risk of mortality in correlation of age and severity of symptoms.
Kennedy Krieger Institutes clinical trial of Lorenzo’s oil and it’s benefits for adults has been put on hold at this time. Many patients opt to treat their symptoms with homeopathic supplements, mustard oil, acupuncture and exercise.
