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- Adrenoleukodystrophy (ALD) is a rare genetic disease for which there is no effective treatment or cure. It affects both the adrenal gland and the white matter of the nervous system. ALD is found in many races and ethnic groups around the world.
- Because it is an X-linked disorder, ALD manifests primarily in males and is transmitted by female carriers (who may also develop mild neurological symptoms later in life). If a female carrier has a child, she has a 25% chance of having an affected male; a 25% chance of having a female carrier, and a 50% chance of having a normal boy or girl.
- In the childhood version of ALD, which is observed in approximately 35% of males with the ALD gene, the onset of symptoms usually occurs between the ages of 4 and 10 years. Early warning signs include learning disabilities and symptoms of attention deficit disorder. As the myelin in the brain continues to deteriorate, these boys may also develop vision and hearing loss, impaired coordination, personality changes, seizures and dementia. Usually, in two to three years from diagnosis, these children lose all of their cognitive and physical functions, and lapse into a vegetative state leading to death.
- In the more common, adult-onset version of the disease, known as adrenomyeloneuropathy (AMN), men in their twenties and thirties begin to experience difficulty walking, as well as bladder and bowel disturbances. These neurological problems usually progress over several decades. Approximately 40 to 50% of these men eventually develop demyelination of the white matter of the brain, in which case they undergo the same physical and mental deterioration as ALD boys, also declining to a vegetative state within two to three years.
- ALD is easily diagnosed by a simple blood test. A more accurate DNA-based blood test permits accurate identification of female carriers.
- There are few treatment options for ALD. The most common form of dietary therapy, Lorenzo's Oil, does not appear to affect the course of the disease. Bone marrow transplant is currently the most uniformly accepted therapy, however, the mortality rate is significant (approaching 25% in boys and 70% in men), and the procedure is not always effective. New therapies, such as the use of statin drugs and gene therapy are currently under investigation.
Additional information regarding Adrenoleukodystrophy is available on the following web sites:
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