Diagnosis

Your doctor will perform a physical examination ― including a neurological exam ― and review symptoms and medical history to check for signs of metachromatic leukodystrophy.

Your doctor may order tests to diagnose the disorder. These tests also help determine how severe the disorder is.

  • Lab tests. Blood tests look for an enzyme deficiency that causes metachromatic leukodystrophy. Urine tests can be done to check sulfatide levels.
  • Genetic tests. Your doctor may conduct genetic tests for mutations in the gene associated with metachromatic leukodystrophy. He or she may also recommend testing family members, particularly women who are pregnant (prenatal testing), for mutations in the gene.
  • Nerve conduction study. This test measures electrical nerve impulses and function in muscles and nerves by passing a small current through electrodes on the skin. Your doctor may use this test to look for nerve damage (peripheral neuropathy), which is common in people with metachromatic leukodystrophy.
  • Magnetic resonance imaging (MRI). This test uses powerful magnets and radio waves to produce detailed pictures of the brain. These can identify a characteristic striped pattern (tigroid) of abnormal white matter (leukodystrophy) in the brain.
  • Psychological and cognitive tests. Your doctor may assess psychological and thinking (cognitive) abilities and assess behavior. These tests may help determine how the condition affects brain function. Psychiatric and behavioral problems may be the first signs in juvenile and adult forms of metachromatic leukodystrophy.

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

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Coping and support

Caring for a child or family member with a chronic and progressively worsening disorder such as metachromatic leukodystrophy can be stressful and exhausting. The level of daily physical care increases as the disease progresses. You may not know what to expect, and you may worry about your ability to provide the care needed.

Consider these steps to prepare yourself:

  • Learn about the disorder. Learn as much as you can about metachromatic leukodystrophy. Then you can make the best choices and be an advocate for yourself or your child.
  • Find a team of trusted professionals. You'll need to make important decisions about care. Medical centers with specialty teams can offer you information about the disorder, coordinate your care among specialists, help you evaluate options and provide treatment.
  • Seek out other families. Talking to people who are dealing with similar challenges can provide you with information and emotional support. Ask your doctor about support groups in your community. If a group isn't for you, maybe your doctor can put you in touch with a family who has dealt with the disorder. Or you may be able to find group or individual support online.
  • Consider support for caregivers. Ask for or accept help in caring for your loved one when needed. Options for additional support can include asking about sources of respite care, asking for support from family and friends, and taking time for your own interests and activities. Counseling with a mental health professional may help with adjustment and coping.

Metachromatic leukodystrophy care at Mayo Clinic

March 06, 2020
  1. Metachromatic leukodystrophy. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy. Accessed Oct. 24, 2019.
  2. Helman G, et al. Disease specific therapies in leukodystrophies and leukoencephalopathies. Molecular Genetics and Metabolism. 2015; doi:10.1016/j.ymgme.2015.01.014.
  3. Metachromatic leukodystrophy. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/inherited-disorders-of-metabolism/metachromatic-leukodystrophy?query=Metachromatic%20Leukodystrophy. Accessed Oct. 24, 2019.
  4. Van Rappard DF, et al. Slowly progressive psychiatric symptoms: Think metachromatic leukodystrophy. Journal of the American Academy of Child and Adolescent Psychiatry. 2018; doi:10.1016/j.jaac.2017.11.017.
  5. Metachromatic leukodystrophy information page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Metachromatic-Leukodystrophy-Information-Page. Accessed Oct. 24, 2019.
  6. Neurological diagnostic tests and procedures fact sheet. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Neurological-Diagnostic-Tests-and-Procedures-Fact. Accessed Oct. 24, 2019.
  7. de Oliveira Poswar F, et al. Lysosomal diseases: Overview on current diagnosis and treatment. Genetics and Molecular Biology. 2019; doi:10.1590/1678-4685-GMB-2018-0159.
  8. Beck M. Treatment strategies for lysosomal storage disorders. Developmental Medicine and Child Neurology. 2018; doi:10.1111/dmcn.13600.
  9. Rosenberg JB, et al. Gene therapy for metachromatic leukodystrophy. Journal of Neuroscience Research. 2016; doi:10.1002/jnr.23792.
  10. Adang LA, et al. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Molecular Genetics and Metabolism. 2017; doi:10.1016/j.ymgme.2017.08.006.
  11. Brown A. Allscripts EPSi. Mayo Clinic. July 26, 2019.
  12. Harrington M, et al. Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: Development of the Caregiver Impact Questionnaire. Journal of Patient-Reported Outcomes. 2019; doi:10.1186/s41687-019-0140-3.
  13. Morava-Kozciz E (expert opinion). Mayo Clinic. Feb. 2, 2020.