What Is MELAS Syndrome?

MELAS syndrome (MIM540000), also known as mitochondrial myopathy encephalopathy with lactic acidosis and stroke-like attacks, is the most common maternal genetic mitochondrial disease. Clinical features include recurrent shock, myopathy, ataxia, myoclonus, mental retardation, and deafness that began before the age of 40. A few patients have recurrent vomiting, periodic migraines, diabetes, extraocular muscle weakness or paralysis, which limits horizontal eye movements (progressive extraocular muscle paralysis, PEO), and ptosis, muscle weakness, and short stature Wait. ^[1]