What syndrome is associated with mitochondrial myopathy and ragged red fibers?

Mitochondrial myopathy is a condition caused by dysfunction in the mitochondria, the powerhouses of the cell. A key characteristic of this condition is the presence of ragged red fibers when muscle biopsies are examined under a microscope. Ragged red fibers appear due to the accumulation of abnormal mitochondria within muscle cells, which is a hallmark finding in certain mitochondrial disorders.

MERRF syndrome, which stands for Myoclonic Epilepsy with Ragged Red Fibers, distinctly features both myoclonic seizures and the presence of these ragged red fibers. This syndrome arises from mutations in mitochondrial DNA, leading to the clinical manifestations that combine neurological issues and myopathy. The presence of ragged red fibers specifically correlates with MERRF, making this choice particularly relevant.

While Kearns-Sayre syndrome and Leigh syndrome are also mitochondrial disorders, they manifest with different clinical features and may not consistently exhibit ragged red fibers in the same manner as MERRF. Kearns-Sayre syndrome is characterized by a triad of symptoms including ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects, whereas Leigh syndrome is marked by progressive neurologic decline, typically without the myopathy being as prominent or the same