MEPAN is caused by mutations in the MECR gene, which is a gene in the mitochondrial fatty acid synthesis pathway (mtFAS) that makes a protein which helps the mitochondria in our bodies to make fatty acids needed for respiration (energy) and a number of other metabolic processes. More research is needed to fully understand the pathway and how MECR mutations cause MEPAN symptoms.

MEPAN symptoms include motor issues, problems with balance, fatigue, impaired speech and vision. They may begin to appear before the age of 12 months, or later in childhood. Similar to Parkinson's or Alzheimer's, MEPAN is a progressive neurodegenerative condition that worsens over time. Some patients never learn to walk or talk, or they may acquire those skills at first then lose them as they grow up. Gradual vision loss may leave patients with no functional sight.

As of early 2024 there are over 30 people around the world living with MEPAN. This is up from only seven patients in 2016 when MEPAN was first described in medical literature. Certain genetic mutations involved in MEPAN appear to be more prevalent in families with Ashkenazi Jewish backgrounds.* Because MEPAN is still a relatively "new" rare disease, there are certainly more MEPAN patients to be found. Patients have been diagnosed with MEPAN in Australia, China, France, Germany, Italy, Israel, Lebanon, the U.S., Tunisia, and Turkey.

*Source: ClinVarhttps://www.ncbi.nlm.nih.gov/clinvar/variation/374878/

accessed 5/17/2024

There are no biochemical tests for the condition, so MEPAN can only be diagnosed through genetic testing. Patients can also have defining characteristics on brain MRIs that can provide clues. Since access to genetic testing can vary widely based on insurance coverage or geography, it is likely there are other people with MEPAN that remain undiagnosed or have been misdiagnosed with cerebral palsy or some other disorder.

If you suspect that you or a family member may have a genetic condition, MEPAN Foundation partners with Probably Genetic to offer free genetic testing to qualified individuals - learn more here.

MEPAN is an autosomal recessive disorder, meaning that a patient must inherit two faulty copies of the MECR gene - one from each parent - to have the condition. There is a 1 in 4 chance that both parents carrying MECR gene mutations will pass them onto an affected child.

There are only supportive interventions for MEPAN. These are primarily medications that may reduce some symptoms of the person's movement disorder. These drugs can lose their effectiveness over time, and may often have unwanted side effects such as drowsiness or reduced muscle tone. Patients can also take a "mito cocktail" that can include supplements such as alpha lipoic acid, antioxidant vitamins (C and E), carnitine, CoQ10, N-Acetylcysteine, certain B vitamins and other compounds, but there are no research data to confirm their effectiveness in MEPAN.