{"id":1231,"date":"2019-01-27T15:09:42","date_gmt":"2019-01-27T15:09:42","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1231"},"modified":"2026-02-24T00:49:42","modified_gmt":"2026-02-24T00:49:42","slug":"diagnosis-of-possible-mitochondrial-disease-an-existential-crisis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/01\/27\/diagnosis-of-possible-mitochondrial-disease-an-existential-crisis\/","title":{"rendered":"Diagnosis of \u2018possible\u2019 mitochondrial disease: an existential crisis (Contributed by Dr. Sumit Parikh)"},"content":{"rendered":"

Primary mitochondrial diseases remain difficult to diagnose. Many patients with a phenotype concerning for mitochondrial disease are unable to receive genetic confirmation.\u00a0 In these instances, diagnostic terms such as \u201cunlikely,\u201d \u201cpossible\u201d or \u201cprobable\u201d mitochondrial disease are often used.<\/p>\n

Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders \u2013 and there are a growing number of phenocopies of mitochondrial disease.<\/p>\n

In this article we review some of the strengths and weaknesses of current testing modalities, the number of phenocopies identified and how a diagnosis of \u201cpossible\u201d mitochondrial disease may result in harm to patients and their families \u2013 potentially creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care.<\/p>\n

We make the recommendation that for patients without a genetically confirmed diagnosis – a categorization of \u201cdiagnosis uncertain\u201d<\/em> is preferred over terms such as \u201cpossible\u201d or \u201cprobable\u201d mitochondrial disease. (https:\/\/jmg.bmj.com\/content\/early\/2019\/01\/25\/jmedgenet-2018-105800<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Primary mitochondrial diseases remain difficult to diagnose. Many patients with a phenotype concerning for mitochondrial disease are unable to receive genetic confirmation.\u00a0 In these instances, diagnostic terms such as \u201cunlikely,\u201d \u201cpossible\u201d or \u201cprobable\u201d mitochondrial disease are often used. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1231","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nDiagnosis of \u2018possible\u2019 mitochondrial disease: an existential crisis (Contributed by Dr. Sumit Parikh) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/01\/27\/diagnosis-of-possible-mitochondrial-disease-an-existential-crisis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Diagnosis of \u2018possible\u2019 mitochondrial disease: an existential crisis (Contributed by Dr. Sumit Parikh) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Primary mitochondrial diseases remain difficult to diagnose. Many patients with a phenotype concerning for mitochondrial disease are unable to receive genetic confirmation.\u00a0 In these instances, diagnostic terms such as \u201cunlikely,\u201d \u201cpossible\u201d or \u201cprobable\u201d mitochondrial disease are often used. 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