Metachromatic Leukodystrophy Quiz

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Reviewed By:

Benjamin Kummer, MD

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

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.

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People with similar symptoms also use Ubie's symptom checker to find possible causes

  • Walking as if dragging

  • Abnormal gait

  • Can't relax my muscles

  • Shuffle when I walk

  • Feeling weak after a panic attack

  • Difficulty walking in a straight line with one foot directly in front of the other

  • Muscle rigidity

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Learn more about Metachromatic Leukodystrophy

Content updated on Jan 19, 2024

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.

Symptoms of metachromatic leukodystrophy

  • 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

  • Slurred speech

  • Child is developing slower than his or her peers

  • Loss of appetite

Questions your doctor may ask to check for metachromatic leukodystrophy

  • Are you unable to move both arms?

  • Is walking difficult for you?

  • Are you unable to move both legs?

  • Do you have stiff muscles and/or inflexible joints even with assistance?

  • Do your arms or legs feel weak?

Treatment for 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.

View the symptoms of Metachromatic Leukodystrophy

References

  • 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.

    https://link.springer.com/article/10.1007/BF02834352

User testimonials

Reviewed By:

Benjamin Kummer, MD

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

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.

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