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I can't move my arms
Hard to walk
Weak
Cognitive delay
Unable to move both legs
Muscle tension
Speech not fluent
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What is Metachromatic Leukodystrophy?
Metachromatic leukodystrophy (MLD) or sulfatide lipidosis is a rare genetic disease that leads to the progressive destruction of the nervous system and causes lipids to accumulate in cells, especially in the brain, spinal cord, and nerves. This buildup is due to a deficiency of an enzyme called sulfatides, which helps break down lipids.
Typical Symptoms of Metachromatic Leukodystrophy
- Both arms feel weak or difficult to move
- Difficulty walking normally
- Both legs feel weak or difficult to move
- Stiff, rigid muscles causing difficulty bending joints
- Weakness in your arms or legs
- Difficulty speaking clearly
- Child is developing slower than his or her peers
- Difficulty pronouncing words clearly
Diagnostic Questions for Metachromatic Leukodystrophy
Your doctor may ask these questions to check for this disease:
- Are both of your arms feeling weak or difficult to move?
- Do you have difficulty walking normally?
- Are both of your legs feeling weak or difficult to move?
- Do you have stiff muscles and/or inflexible joints even with assistance?
- Do you have weakness in your arms or legs?
Treatment of Metachromatic Leukodystrophy
There is currently no curative treatment for MLD. Treatment focuses on preventing nerve damage and slowing the progression of the disease. Stem cell or bone marrow transplants may help slow down the disease's progression in some patients.
Reviewed By:
Benjamin Kummer, MD (Neurology)
Dr Kummer is Assistant Professor of Neurology at the Icahn School of Medicine at Mount Sinai (ISMMS), with joint appointment in Digital and Technology Partners (DTP) at the Mount Sinai Health System (MSHS) as Director of Clinical Informatics in Neurology. As a triple-board certified practicing stroke neurologist and informaticist, he has successfully improved clinical operations at the point of care by acting as a central liaison between clinical neurology faculty and DTP teams to implement targeted EHR configuration changes and workflows, as well as providing subject matter expertise on health information technology projects across MSHS. | Dr Kummer also has several years’ experience building and implementing several informatics tools, presenting scientific posters, and generating a body of peer-reviewed work in “clinical neuro-informatics” – i.e., the intersection of clinical neurology, digital health, and informatics – much of which is centered on digital/tele-health, artificial intelligence, and machine learning. He has spearheaded the Clinical Neuro-Informatics Center in the Department of Neurology at ISMMS, a new research institute that seeks to establish the field of clinical neuro-informatics and disseminate knowledge to the neurological community on the effects and benefits of clinical informatics tools at the point of care.
Shohei Harase, MD (Neurology)
Dr. Harase spent his junior and senior high school years in Finland and the U.S. After graduating from the University of Washington (Bachelor of Science, Molecular and Cellular Biology), he worked for Apple Japan Inc. before entering the University of the Ryukyus School of Medicine. He completed his residency at Okinawa Prefectural Chubu Hospital, where he received the Best Resident Award in 2016 and 2017. In 2021, he joined the Department of Cerebrovascular Medicine at the National Cerebral and Cardiovascular Center, specializing in hyperacute stroke.
Content updated on Feb 19, 2025
Following the Medical Content Editorial Policy
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Link to full study:
https://www.medrxiv.org/content/10.1101/2024.08.29.24312810v1References
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A (2021). Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Cytotherapy.
https://pubmed.ncbi.nlm.nih.gov/38613540/van Rappard DF, Boelens JJ, Wolf NI (2015). Metachromatic leukodystrophy: Disease spectrum and approaches for treatment. Best practice & research. Clinical endocrinology & metabolism.
https://pubmed.ncbi.nlm.nih.gov/25987178/Gieselmann V (2008). Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta paediatrica (Oslo, Norway : 1992).
https://pubmed.ncbi.nlm.nih.gov/18339182/