According to a new study, a rare mitochondrial disease with a big name -- mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, or MELAS -- is often misdiagnosed. The authors of the study made recommendations for diagnosis that could help patients in Pennsylvania and around the world.
Mitochondria are small organelles that provide energy for the body. DNA mutations in mitochondrial-expressed genes can cause rare disorders that affect several body systems, particularly the muscles and the nervous system. Unfortunately, MELAS can have different clinical manifestations, which can cause it to be confused with other disorders. Early symptoms include muscle pain and weakness, recurrent headaches, seizures, vomiting and loss of appetite.