Treatment

Metachromatic leukodystrophy can't be cured yet, but clinical trials hold some promise for future treatment. Current treatment is aimed at preventing nerve damage, slowing progression of the disorder, preventing complications and providing supportive care. Early recognition and intervention may improve outcomes for some people with the disorder.

As the disorder progresses, the level of care required to meet daily needs increases. Your health care team will work with you to help manage signs and symptoms and try to improve quality of life. Talk to your doctor about the possibility of participating in a clinical trial.

Metachromatic leukodystrophy can be managed with several treatment approaches:

• Medications. Medications may reduce signs and symptoms, such as behavioral problems, seizures, difficulty with sleeping, gastrointestinal issues, infection and pain.
• Physical, occupational and speech therapy. Physical therapy to promote muscle and joint flexibility and maintain range of motion may be helpful. Occupational and speech therapy can help maintain functioning.
• Nutritional assistance. Working with a nutrition specialist (dietitian) can help provide proper nutrition. Eventually, it may become difficult to swallow food or liquid. This may require assistive feeding devices as the condition progresses.
• Other treatments. Other treatments may be needed as the condition progresses. Examples include a wheelchair, walker or other assistive devices; mechanical ventilation to assist with breathing; treatments to prevent or address complications; and long-term care or hospitalization.

Care for metachromatic leukodystrophy can be complex and change over time. Regular follow-up appointments with a team of medical professionals experienced in managing this disorder may help prevent certain complications and link you with appropriate support at home, school or work.

Potential future treatments

Potential treatments for metachromatic leukodystrophy that are being studied include:

• Gene therapy and other types of cell therapy that introduce healthy genes to replace diseased ones
• Enzyme replacement or enhancement therapy to decrease buildup of fatty substances
• Substrate reduction therapy, which reduces the production of fatty substances