Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare maternally inherited mitochondrial disorder that predominantly affects the nervous system and muscles. MELAS typically appears in childhood after a period of normal early development. This condition manifests with recurrent episodes of encephalopathy, myopathy, headache, and focal neurological deficits in children or young adults, usually between the ages of 2 and 15. A distinctive feature of the syndrome is the occurrence of stroke-like episodes leading to hemiparesis, hemianopia, or cortical blindness. A nucleotide substitution in transfer RNA (tRNA) is responsible for most cases of the disease. One specific substitution, the m.3243A>G (A-to-G substitution at nucleotide 3243), is responsible for 80% of cases, whereas another tRNA variation, the m.3271T>C (T-to-C substitution at nucleotide 3271), accounts for the remaining cases. MELAS is characterized by progressive deterioration of the nervous system that leads to neurological impairment and dementia in adolescence or early adulthood. Unfortunately, there is currently no known treatment that can slow or halt the progression of the disease. This activity describes the etiology, pathophysiology, diagnosis, and management of MELAS syndrome. This activity also provides healthcare professionals with the knowledge and tools necessary to improve patient care for individuals with MELAS syndrome.
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