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The New Year is a time to resolve to do something differently or learn something new. There are many diseases of which most people are not aware. One such disease is Metachromatic Leukodystrophy (MLD). MLD is a genetic disorder most often caused by the lack of arylsulfatase A enzyme.
If one is missing arylsulfatase A (ARSA), chemicals build up around nerve cells damaging the nerve sheaths. This will affect the nervous system, kidneys, gallbladder, as well as other organs. Over time it will get worse as it affects nerves, muscles, organs, and behavior.
This is a recessive genetic disease; a person must get a copy of a faulty gene from each parent. If a person only gets one copy, they are a carrier of the disease. If both parents have the gene, there is a 25% chance that a child will receive the MLD gene from each parent and get the disease. If a person is a carrier, they usually do not get the disease.
MLD can occur at different points in one’s life and is diagnosed by age. About one in 40,000 people have the disease. If it develops between ages one and two, it is Late Infantile MLD. Juvenile MLD is when symptoms present between ages four and twelve. Adult and Late-Stage Juvenile MLD is when symptoms occur after age 14 and as late as the 40s or 50s.
The symptoms for MLD include abnormal high muscle tone, abnormal muscle movements, behavior problems, decreased mental function, and decreased muscle tone. As more muscles are affected, symptoms such as difficulty walking, feeding problems, frequent falls, and incontinence begin to occur. This leads to the inability to do normal tasks.
Some of the signs are things like abnormal eye movements, abnormal posture, decreased or no deep tendon reflexes, optic nerve atrophy and eventually coma. Blood or skin is cultured to look for low arylsulfatase A activity. DNA testing can also be done looking for the specific gene. There are a number of other tests that may also be performed.
Unfortunately, there is no cure for MLD. Care tries to treat symptoms to improve and preserve quality of life. The MLD Foundation reports that there is a lot of research underway to find a cure or better treatment. In Milan, Italy, doctors at the San Raffaele Telethon Institute are using human stem cells(HSC) to try and cure the disease. They take affected patients HSCs, then the normal ARSA gene is transplanted into the HSCs, then their own corrected HSCs are transplanted back into the patient. Using the patient's own HSC should reduce or eliminate the complications of graft versus host disease and provide a long-term solution to proper gene expression in MLD patients. Other research is looking a ways to help the body rid itself of the sulfatides produced by the body due to the lack of arylsulfatase A activity.
With the help of science, medicine, and people like you, this is a disease that will be treated and cured. Visit www.mldfoundation.org for more information.
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