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MELAS Syndrome

Abstract

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NORD is very grateful to Fernando Scaglia, MD, FACMG, Associate Professor, Department of Molecular and Human Genetics, Baylor College of Medicine, for assistance in the preparation of this report.

Synonyms of MELAS Syndrome

  • Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episod
  • Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Disorder Subdivisions

  • No subdivisions found.

General Discussion

MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare disorder that begins in childhood, usually between two and fifteen years of age, and mostly affects the nervous system and muscles. The most common early symptoms are seizures, recurrent headaches, loss of appetite and recurrent vomiting. Stroke-like episodes with temporary muscle weakness on one side of the body (hemiparesis) may also occur and this can lead to altered consciousness, vision and hearing loss, loss of motor skills and intellectual disability. MELAS is caused by mutations in mitochondrial DNA and in one patient, this syndrome has been associated with mutations in a nuclear gene, POLG1.

MELAS Syndrome Resources

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