Metachromatic Leukodystrophies Quiz

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Learn more about Metachromatic leukodystrophies

Content updated on Sep 20, 2022

What is metachromatic leukodystrophies?

Metachromatic leukodystrophy (MLD) or sulfatide lipidosis is a rare genetic disease that causes progressive destruction of the nervous system and causes fatty substances (lipids) to build up in cells, particularly in the brain, spinal cord and nerves. This buildup due to deficiency of an enzyme called sulfatides which helps break down lipids.

Symptoms of metachromatic leukodystrophies

  • Unable to move both arms

  • Difficulty in walking

  • Unable to move both legs

  • Stiff, rigid muscles causing difficulty bending joints

  • Weakness in arms or legs

  • Child is developing slower than his or her peers

Questions your doctor may ask to check for metachromatic leukodystrophies

Your doctor may ask these questions to diagnose metachromatic leukodystrophies

  • Are you unable to move both arms?

  • Do you have any difficulty walking?

  • Are you unable to move both legs?

  • Do you have stiff muscle and/or joints that are not flexible even with assistance?

  • Do you feel any weakness in your arms or legs?

Treatment for metachromatic leukodystrophies

No curative treatment is currently available for MLD. Treatment involves preventing nerve damage and slowing progression of the disease. Stem cell or bone marrow transplant may help slow down disease progression in some patients.

View the symptoms of Metachromatic leukodystrophies


  • Farooqui AA, Horrocks LA. Biochemical aspects of globoid and metachromatic leukodystrophies. Neurochem Pathol. 1984 Fall;2(3):189-218. doi: 10.1007/BF02834352. PMID: 6152665.

Reviewed By:

Shohei Harase

Shohei Harase, MD (Neurology)

From our team of 50+ doctors

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