MELAS typically presents during childhood, although symptoms can appear as early as before age 2 or as late as after age 40 . Over time, it results in neurological impairment and is often fatal. Most individuals survive ~17 years following the onset of seizures or other problems of the nervous system.
Medical research has not yet established a means of stopping or reversing MELAS. However, supportive treatments that can make a difference in affected individuals’ quality of life are available.
- MT-TL1 (mutated in an estimated 80% of MELAS cases)
- MT-TF MT-TH
- cortical vision loss
- muscle weakness
- short stature
- hearing impairment
- learning disability
- molecular genetic testing for a MELAS mutation
- measurements of the level of lactic acid in the blood or cerebrospinal fluid (CSF)
- blood tests for the creatine kinase enzyme
- a muscle sample (biopsy)
- brain-imaging such as computed tomography (CT) scan or magnetic resonance imaging (MRI)
- arginine therapy for stroke-like episodes
- anti-epileptic medications for seizures (although Valproate should be avoided)
- vitamins such as coenzyme Q10 or L-carnitine for general benefit in some individuals
- Moderate supervised exercise for muscle weakness
- insulin for diabetes
- cochlear implants for hearing loss
Since MELAS is an inherited disorder, genetic counseling for the family may also be recommended.
What are the next steps if my loved one has MELAS?
- Get Support
Connect with our Support & Education Team online, via email at firstname.lastname@example.org or phone at (888) 900-6486.
- Check our Clinical Trials Finder
Use our Clinical Trials Finder to see if you qualify for any clinical trials.
- Join our patient registry, mitoSHARE
We are actively recruiting MELAS families to participate in our patient registry, mitoSHARE. Patient registries like mitoSHARE are an integral part in charting a course toward treatments and cures for MELAS and other mitochondrial diseases. There are currently over 30 active mitochondrial disease clinical trials. Next generation patient registries like mitoSHARE are an integral part of expanding that number.
- Become an advocate
Ask your representatives to prioritize mitochondrial disease research and support via the UMDF Advocacy Center. We’ll send regular action items so you – and your friends and family – can let Congress know where we need their support. Click here to sign up.
- Join the conversation online
– UMDF Social Media Support Groups: Facebook Support Group
– UMDF News & Updates: Facebook | Twitter | Instagram | YouTube
- Get involved
Join the fight by giving your voice, generosity, time or energy. Click here to see how you can help.
UMDF is helping chart a path toward treatments and eventual cure of mitochondrial diseases like MELAS through:
Thanks to Family Impact Funds from the Kieffer, Kindbom, and Sterchi families, UMDF has partnered with Dr. Tamas Kozicz, M.D., Ph.D. and his team at the Mayo Clinic to study drug repurposing for MELAS patients. This program uses cardiac cell models to identify existing drugs with the highest potential to reverse cardiac issues in patients with MELAS, utilizing a high-throughput screening methodology to test hundreds of drug candidates in a matter of months.
If successful, the project aims to create future clinical trials to improve clinical care — initially for individuals with m.3243A>G-related mitochondrial disease, the most common mutation leading to MELAS — and then progress to patients with other variants associated with MELAS.
Research & Funding: UMDF has provided more than $15 million in research funding to find treatments for diseases like MELAS. UMDF advocacy has helped secure an additional $55 million in federal funding via the Department of Defense and National Institutes of Health.
- Data: Over two decades ago, UMDF pioneered patient registries for the mitochondrial disease community. Today, our next generation patient registry, mitoSHARE, is helping chart a path toward the treatment and eventual cure of mitochondrial diseases.
- Patient Support: Thousands of families just like you depend upon UMDF for support and education on diseases like MELAS. Attendance at our support meetings annually tops 7,000, including disease specific support meetings for MELAS families.
- Uusimaa J, Moilanen JS, Vainionpää L, et al. Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. Ann Neurol. 2007;62(3):278-287. doi:10.1002/ana.21196
- El-Hattab AW, Almannai M, Scaglia F. MELAS. 2001 Feb 27 [Updated 2018 Nov 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1233/
- Kaufmann P, Engelstad K, Wei Y, et al. Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology. 2011;77(22):1965-1971. doi:10.1212/WNL.0b013e31823a0c7f
- Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990;348(6302):651-653. doi:10.1038/348651a0
- Lorenzoni PJ, Werneck LC, Kay CS, Silvado CE, Scola RH. When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?. Arq Neuropsiquiatr. 2015;73(11):959-967. doi:10.1590/0004-282X20150154
- Koga Y, Povalko N, Inoue E, et al. Therapeutic regimen of L-arginine for MELAS: 9-year, prospective, multicenter, clinical research. J Neurol. 2018;265(12):2861-2874. doi:10.1007/s00415-018-9057-7
- Pia S, Lui F. Melas Syndrome. [Updated 2021 Sep 25]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK532959/