Parikh, S;
Karaa, A;
Goldstein, A;
Bertini, ES;
Chinnery, PF;
Christodoulou, J;
Cohen, BH;
... Rahman, S; + view all
(2019)
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
Journal of Medical Genetics
, 56
(3)
pp. 123-130.
10.1136/jmedgenet-2018-105800.
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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.
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