MEPAN Syndrome is a genetic disease that strikes in early childhood. Patients have trouble with voluntary movement and balance, and may begin to develop vision issues. These symptoms worsen over time and can leave patients unable to walk independently, produce speech, and legally blind.
What Causes MEPAN?
MEPAN is caused by mutations in the MECR gene, which makes a protein that helps the mitochondria in our bodies to make fatty acids needed for respiration (energy) and a variety of other metabolic processes. More research is needed to fully understand the pathway involved and how these mutations cause MEPAN symptoms.
What are the Symptoms of MEPAN?
Symptoms include motor issues, problems with balance, and delayed speech; they may appear in childhood before the age of 12 months. Similar to Parkinson's or Alzheimer's, MEPAN is a progressive 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.
How Many People Have MEPAN?
As of late 2021 there are nearly 30 people around the world with MEPAN. This is up from only seven patients in 2016 when it was first described in medical literature. It appears that MEPAN may be more prevalent in families with Ashkenazi Jewish backgrounds. Because MEPAN is still relatively "new" rare disease, there are certainly more MEPAN patients to be found.
How is MEPAN Diagnosed?
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.
How is MEPAN Inherited?
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 parents carrying MECR gene mutations will pass them onto their child.
Are There Treatments for MEPAN?
There are no proven treatments for MEPAN; there are only medications that can reduce movement disorder symptoms. 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 alpha lipoic acid, antioxidant vitamins (C and E), carnitine, CoQ10, N-Acetylcysteine, and certain B vitamins, but there are no research data to confirm their effectiveness.