Conditions / Musculoskeletal

MELAS syndrome

info · Musculoskeletal · ICD-10: E88.41

A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, with symptoms of myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and sev

A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, with symptoms of myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.

Signs and symptoms

  • Encephalopathy
  • Bilateral tonic-clonic seizure
  • Myopathy
  • Arrhythmia
  • Diabetes mellitus
  • Hemianopia
  • Growth abnormality
  • Cerebral visual impairment
  • Developmental cataract
  • Hemiparesis

Also known as: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES