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 is no cure and the treatment prescribed is symptomatic and supportive.
DID YOU KNOW?
Metachromatic Leukodystrophy is a rare disorder that is reported to occur in one in 40,000 to 160,000 people.