Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Without ARSA, sulfatides build up in cells, especially in the cells of the nervous system, causing damage to various organs, including the kidneys and nervous system, which includes the brain and spinal cord. These substances affect the nerves in the body, damaging them so that they're unable to send electrical impulses. Muscle weakness or lack of muscle control is common in people with MLD and is a result of this type of damage to the nerves.
HOW IS METACHROMATIC LEUKODYSTROPHY DIAGNOSED?
Blood test to determine enzyme deficiency and urine tests to observe if there is sulfatides present are some of the test that could be performed. MRI scan and study of the nerve impulses could also be recommended by a neurologist.
HOW IS METACHROMATIC LEUKODYSTROPHY TREATED?
There are no current treatments available to control or cure the issue of MLD. However, children may get respite from gene therapy, enzyme replacement therapy (ERT), etc. along with other pain and symptom management techniques. In some cases the substrate reduction therapy and potentially enzyme enhancement therapy is also done.
DID YOU KNOW?
MLD is a progressive disease. This means that the symptoms tend get worse over time. People who have this disease lose all muscle and mental function eventually. If the symptoms don't appear until adulthood, people typically live 20 to 30 years after the diagnosis.