Metachromatic Leukodystrophies Quiz
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Reviewed By:
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 these symptoms also use Ubie's symptom checker to find possible causes
Walking as if dragging
Can't walk without hold onto something
Abnormal gait
Shuffle when I walk
Decreasing my stride length
Difficulty walking in a straight line with one foot directly in front of the other
The first problem was stiff muscles and joints
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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 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 leukodystrophies
Difficulty in walking
Unable to move both arms
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
Do you have any difficulty walking?
Are you unable to move both arms?
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
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 leukodystrophies
Diseases related to Metachromatic leukodystrophies
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:
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.
Just 3 minutes.
Developed by doctors.
Ubie is supervised by 50+ medical experts worldwide
Seiji Kanazawa, MD, PHD
Obstetrics and gynecology (OBGYN)
National Center for Child Health and Development, Japan