X-Linked+Adrenoleukodystrophy


 * X-Linked Adrenoleukodystrophy**

This disorder was first found in 1923 and was known as Shilder's disease and sudanophilic leukodystrophy, but in 1971 the name adrenoleukodystrophy was given by Dr. Blaw. The adreno refers to adrenal glands, leuko refers to the white matter in the brain, and dystrophy means unusual growth/development.
 * History**

There are 3 main variations of X-ALD - the childhood cerebral form, adrenomyeloneuropathy (AMN), and Addison disease. This disorder affects the white matter in the nervous system and the adrenal cortex. It is storage of fatty acids where peroxizomes lack the protein (X-AlD protein) enabling them to break down these chains of fatty acids causing a build up. In the brain, the white matter is disintegrating from this build up as well so that this matter surrounding the nerves gets damaged causing neurologic problems. The build up also damages the adrenal gland. This is caused by a gene mutation that comes from the gene ABCD1 and the mutations that occur lead to the variation of diseases related to X-ALD. It is inherited through the X recessive gene and is always seen in males. The childhood manifest occurs between ages 4 and 8, AMN occurs in the late 20s, and Addison occurs from 2 years old to adulthood.
 * General Info**

To see the differences in white matter go to __http://www.pneuro.com/publications/ms/8brainmatter.gif__ for a normal view and __http://radpod.org/wp-content/uploads/2006/11/u_fibres_big.JPG__ for a view of what white matter with this disorder looks like.


 * Symptoms**

Childhood cerebral form (~ 35% of affected) - behavior resembling ADD/hyperactivity - weakening cognition, behavior, vision, hearing, and motor functions - seizures - often complete disability

AMN (~40-45% of affected) - problems with sphincters - muscle weakness - sexual dysfunction - adrenocortical dysfunction - neurologic disabilities

Addison (~10% of affected) - adrenocortical dysfunction - unexplained vomiting - increased weakness/coma - increased skin pigmentation - degree of neurologic disability

The other ~10% of affected individuals come from alternate variations of this disorder.

The easiest way to find out if you have a disorder of this type is by MRI and a blood test for VLCFA (very long chain fatty acids). In both cases it is seen to be abnormal in males and can be diagnosed from there. For treatment there is corticosteroid replacement, which is essential to those with adrenocortical dysfunction, sometimes livesaving. For boys who have the childhood form caught early, bone marrow transplants are an option. In addition, therapy, support, counseling, and urologic management are recommended and very helpful. For pregnant mothers who are carriers, prenatal diagnoses are an option.
 * Diagnosis/How to Treat it**

- If father is affected, he will pass the mutation to all of his daughters, but none to his sons - A carrier mother has a 50% chance of passing on the mutation during each pregnancy - Males inheriting the mutation will be affected while females inheriting will be carriers and not drastically affected
 * Chances of Getting it**

Information from: www.geneclinics.org/profiles/x-ald/details.html www. x-ald.nl/facts.htm