What is it?
MLD is an autosomal recessive genetic disease that has a deficient non-enzyme protein that breaks down lipids. Because of this they build up in the brain, spinal cord and peripheral nerves. The brain and nervous system start to deteriorate and stop functioning.
Why is it considered Autosomal Recessive?
In order to display the trait a person has to have two of the copies of the defective gene (one from the mother and one from the father). If someone receives only one defective gene, that makes them a carrier of the disease but they won’t have the symptoms or problems that the disease would create and most likely they will not even realize they are a carrier until they have a child who inherits the disease (childrenshospital.org). It should be noted that if the offspring should inherit only one of the affected genes on one chromosome it is not considered affected but in some cases the offspring may display the trait to some small degree usually not enough to affect lifestyle.
What are the symptoms?
There are three different forms of MLD; late infantile, juvenile and adult. Late infantile is the most common form and children that are affected have a hard time walking after their first year of life. They become weak, there are delays in their development, they start to lose their vision and later become blind, convulsions, a hard time swallowing, paralysis and dementia. They also may become comatose. Most children die by the age of 5.
The juvenile form has symptoms similar to the late infantile form, but it also slows down performance in school. The adult form usually starts after the age of 16 and begins as a psychiatric disorder and usually takes longer to progress.
What treatments are available?
There isn't a treatment available for MLD, this is a terminal illness. Although there is the option of having a bone marrow transplant which is being studied to see if it could slow down the progression, or even stop the progression. There are other options being researched, such as gene therapy.
Personal Experience: Jaiden Wood's MLD Experience
MLD Awareness Video: http://www.youtube.com/watch?v=7IpImIIurrc
Information taken from: http://www.ninds.nih.gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.htm
