The characteristics and course of MEPAN are still under investigation. Thus far, it is thought that the disease appears as movement disorder in early childhood, which may include dystonia and/or ataxia (ages 1-6.5 years)[2]. Brain MRI may be abnormal and consistent with Leigh syndrome. MEPAN gets worse over time, and affected individuals may need assistance with movement and speech. Individuals also begin to experience reduced vision between 4 and 12 years of age; this vision loss may eventually leave them without functional sight in adulthood[2]. In contrast to some other mitochondrial disorders, however, intellectual ability is often, but not always, preserved[1].
Treatments for MEPAN focus on symptom management and may help individuals maintain mobility and skills as well as improve their quality of life[2]. In addition, some mitochondrial supplements may be effective, including C8 (octanoic acid) and alpha lipoic acid.
- uncontrolled/jerky movements
- problems with balance
- speech problems
Vision loss is also a symptom of MEPAN. However, this symptom typically does not appear until several years after the onset of movement disorder[2].
- molecular genetic testing for mutations that causes MEPAN (through whole exome or whole genome sequencing)
- brain-imaging such as magnetic resonance imaging (MRI)
- Drugs such as anticholinergic agents, baclofen, and benzodiazepines for involuntary muscle movements
- Physical and occupational therapy to maintain or increase mobility
- Braces, walkers, and wheelchairs for mobility
- Speech therapy and/or augmentative communication devices for speech issues
- Visual aids for vision loss
- Dietary supplements are under investigation, including C8 (octanoic acid) and alpha lipoic acid.
- Genetic counseling may also be recommended for families since MEPAN is an inherited disorder.
Are there any clinical trials for MEPAN?
To see what trials you may qualify for, visit our Clinical Trials page – which also includes a Clinical Trials Finder Tool. We also highly encourage you to join our patient registry, mitoSHARE, where we are actively recruiting MEPAN families.
- Get Support
Connect with our Support & Education Team online, via email at support@umdf.org or phone at (888) 900-6486.
- Check our clinical trials finder
Use our Clinical Trials Finder tool to see if you qualify for any clinical trials.
- Join our patient registry, mitoSHARE
We are actively recruiting MEPAN 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 MEPAN 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 where you – and your friends and family – can let Congress know 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 MEPAN through:
- Research & Funding: UMDF has provided more than $14 million in research funding to find treatments for diseases like MEPAN. 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 MEPAN. Attendance at our support meetings annually tops 7,000, including disease specific support meetings for families.
- Clinician Support: To help educate clinicians on diseases like MEPAN, we feature monthly Bench to Bedside clinician seminars, host the annual Mitochondrial Medicine Symposium, support the Mitochondrial Care Network, and educate clinicians on our Mito U platform.
- For more information on MEPAN, please visit:
- Heimer G, Kerätär JM, Riley LG, et al. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. Am J Hum Genet. 2016;99(6):1229-1244. doi:10.1016/j.ajhg.2016.09.021
- Heimer G, Gregory A, Hogarth P, et al. MECR-Related Neurologic Disorder. 2019 May 9. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK540959/
- Nowinski SM, Solmonson A, Rusin SF, et al. Mitochondrial fatty acid synthesis coordinates oxidative metabolism in mammalian mitochondria. Elife. 2020;9:e58041. Published 2020 Aug 17. doi:10.7554/eLife.58041
