Melas Syndrome Quiz
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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.
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Growth disorders
Twitching
Fever seizures (with fever of >100.4°F / 38°C)
Shorter than others
The first seizure
Repetitive seizures
Hearing loss worse on the right
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Learn more about MELAS syndrome
Content updated on Nov 7, 2023
What is MELAS syndrome?
MELAS is a rare genetic disorder that starts in childhood and mainly affects the nervous system and muscles. The disorder is transmitted through the affected person's mother. Typical MELAS symptoms include weak muscles, sudden ("stroke-like") neurological symptoms such as paralysis of the right or left side of the body, blindness, or numbness, in addition to seizures and migraine-like headaches. People who have MELAS are also typically short in size, and have difficulty hearing.
Symptoms of MELAS syndrome
Seizure
Shorter than other children of similar age
Hearing difficulty
Weakness in arms or legs
Blind spots or blind areas in vision
Questions your doctor may ask to check for MELAS syndrome
Your doctor may ask these questions to diagnose MELAS syndrome
Have you had a seizure?
Are (or were) you shorter than other children around your age?
Do you have hearing problems?
Do you feel any weakness in your arms or legs?
Do you have partial loss of vision?
Treatment for MELAS syndrome
There is no cure for MELAS and treatment is primarily symptomatic. Injections of arginine (an amino acid) are used to reduce the severity of stroke-like attacks and decrease the risk of future attacks occurring. Anti-convulsant medications are used to prevent and control seizures, and cochlear implants have been utilized to treat MELAS-related hearing problems.
View the symptoms of MELAS syndrome
Diseases related to MELAS syndrome
References
Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984 Oct;16(4):481-8. doi: 10.1002/ana.410160409. PMID: 6093682.
https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.410160409?sid=nlm%3Apubmed
Montagna P, Gallassi R, Medori R, Govoni E, Zeviani M, Di Mauro S, Lugaresi E, Andermann F. MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology. 1988 May;38(5):751-4. doi: 10.1212/wnl.38.5.751. PMID: 3362373.
https://n.neurology.org/content/38/5/751
Koenig MK, Emrick L, Karaa A, Korson M, Scaglia F, Parikh S, Goldstein A. Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. JAMA Neurol. 2016 May 1;73(5):591-4. doi: 10.1001/jamaneurol.2015.5072. PMID: 26954033.
https://jamanetwork.com/journals/jamaneurology/fullarticle/2499460
El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. doi: 10.1016/j.ymgme.2015.06.004. Epub 2015 Jun 15. PMID: 26095523.
https://www.sciencedirect.com/science/article/abs/pii/S109671921530024X?via%3Dihub
Hsu YR, Yogasundaram H, Parajuli N, Valtuille L, Sergi C, Oudit GY. MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis. Heart Fail Rev. 2016 Jan;21(1):103-116. doi: 10.1007/s10741-015-9524-5. PMID: 26712328.
https://link.springer.com/article/10.1007/s10741-015-9524-5
User testimonials
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.
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