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My body is jerking
Too short
Ear problems
Weak
Have a headache
A partial loss of vision
Seizures
Not seeing your symptoms? No worries!
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.
Typical Symptoms of MELAS Syndrome
- Seizure
- Partial loss of vision
- History of dementia
- Difficulty hearing in one or both ears
- Difficulty walking normally
- Eyeballs cannot move properly, and cannot look in a certain direction
- Low red blood cell count on blood test
- Difficulty seeing which affects daily life e.g. driving, climbing stairs
Diagnostic Questions for MELAS Syndrome
Your doctor may ask these questions to check for this disease:
- Have you experienced any seizures?
- Have you experienced partial loss of vision?
- Have you been diagnosed with dementia?
- Are you experiencing difficulty hearing in one or both ears?
- Do you have difficulty walking normally?
Treatment of 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.
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 Mar 31, 2024
Following the Medical Content Editorial Policy
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- Blind spots in vision
- Twitching
- Fever seizures (with fever of >100.4°F / 38°C)
- Loss of visual field
- Seizures without fever
- Walking difficulties
- The first seizure
- Spots where vision is blocked or disturbed
- Repetitive seizures
- Seizure with fainting
- Hearing loss worse on the right
- Need bright light to see well
- Seizures when I wake up
- I have a seizure that is not symmetric
- Can't walk
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Link to full study:
https://www.medrxiv.org/content/10.1101/2024.08.29.24312810v1References
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%3ApubmedMontagna 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/38/5/751Koenig 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/2499460El-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%3DihubHsu 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