Diagnosis of ‘possible’ mitochondrial disease: an existential crisis Academic Article uri icon

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abstract

  • Primary genetic mitochondrial diseases are often difficult to diagnose, and the term ‘possible’ mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of ‘possible’ mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of ‘diagnosis uncertain’, together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.

authors

  • Parikh, Sumit
  • Karaa, Amel
  • Goldstein, Amy
  • Bertini, Enrico Silvio
  • Chinnery, Patrick F
  • Christodoulou, John
  • Cohen, Bruce H
  • Davis, Ryan L
  • Falk, Marni J
  • Fratter, Carl
  • Horvath, Rita
  • Koenig, Mary Kay
  • Mancuso, Michaelangelo
  • McCormack, Shana
  • McCormick, Elizabeth M
  • McFarland, Robert
  • Nesbitt, Victoria
  • Schiff, Manuel
  • Steele, Hannah
  • Stockler, Silvia
  • Sue, Carolyn
  • Tarnopolsky, Mark
  • Thorburn, David R
  • Vockley, Jerry
  • Rahman, Shamima

publication date

  • March 2019