RT Journal Article
SR Electronic
T1 Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 123
OP 130
DO 10.1136/jmedgenet-2018-105800
VO 56
IS 3
A1 Parikh, Sumit
A1 Karaa, Amel
A1 Goldstein, Amy
A1 Bertini, Enrico Silvio
A1 Chinnery, Patrick F
A1 Christodoulou, John
A1 Cohen, Bruce H
A1 Davis, Ryan L
A1 Falk, Marni J
A1 Fratter, Carl
A1 Horvath, Rita
A1 Koenig, Mary Kay
A1 Mancuso, Michaelangelo
A1 McCormack, Shana
A1 McCormick, Elizabeth M
A1 McFarland, Robert
A1 Nesbitt, Victoria
A1 Schiff, Manuel
A1 Steele, Hannah
A1 Stockler, Silvia
A1 Sue, Carolyn
A1 Tarnopolsky, Mark
A1 Thorburn, David R
A1 Vockley, Jerry
A1 Rahman, Shamima
YR 2019
UL http://jmg.bmj.com/content/56/3/123.abstract
AB 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.