MELAS syndrome

This code identifies MELAS syndrome, a progressive neurodegenerative mitochondrial disorder characterized by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. It is a genetic condition affecting multiple organ systems, primarily the brain and muscles, due to impaired cellular energy production.

Use this code when documentation explicitly states a diagnosis of MELAS syndrome. This diagnosis is typically made based on clinical presentation, elevated lactic acid levels, muscle biopsy findings, and genetic testing confirming pathogenic mitochondrial DNA mutations.

• Ensure documentation clearly specifies "MELAS syndrome" and not just general mitochondrial disease.
• Consider sequencing this code as the primary diagnosis when it is the reason for the encounter.
• Look for associated manifestations like stroke-like episodes (I63.-), epilepsy (G40.-), or cardiomyopathy (I42.-) to code co-morbidities.