MLD Management
As with other lysosomal storage disorders, MLD is characterized by the deficiency of an enzyme. The treatments under investigation include those designed to replace the missing enzyme in tissues that are affected by this deficiency, specifically the brain, spinal cord, and peripheral nerves.
In many patients, MLD progresses so rapidly that doctors will focus primarily on managing symptoms and improving quality of life. For example, early in the disease course devices to maintain mobility such as braces and other walking aids may be provided. As the illness progresses, patients may receive nutritional support and medication to diminish spasticity and relieve pain. Increased levels of supportive care will be required and should be developed collaboratively with the patient's physician.
Patients should discuss any management approaches or treatment with a MLD expert. Other medical approaches may be available that attempt to modify the disease however, their benefits and risks may not be fully understood. There is no cure for MLD and research is ongoing into the management of MLD.