Mitochondrial Disease: Symptoms & Signs

Medically Reviewed on 4/21/2020

Mitochondrial disease is the term for a group of neuromuscular diseases. There are a number of mitochondrial diseases. Examples of some of the more common mitochondrial diseases include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalopathy with lactic acidosis and stroke-like episodes. These diseases are often termed myopathies (myopathy means damage to muscle tissue).

Signs and symptoms of these conditions usually involve weak or spontaneous muscle contractions that are weak or spontaneous. Other associated symptoms depend on the exact condition that is present and can include

Cause of mitochondrial disease

Damage to the mitochondria causes mitochondrial disease. Mitochondria are intracellular structures that produce energy for cells.

Other mitochondrial disease symptoms and signs

  • Autism-Like Features
  • Developmental Delays
  • Exercise Intolerance
  • Hearing Problems
  • Heart Kidney or Liver Diseases
  • Learning Disabilities
  • Low Muscle Tone
  • Muscle Pain
  • Muscle Weakness
  • Poor Growth
  • Vision Problems

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Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.