Diagnostic Testing in Suspected Primary Mitochondrial Myopathy
نویسندگان
چکیده
The diagnosis of primary mitochondrial myopathy is often delayed by years due to non-specific clinical symptoms as well variable testing disorders. aim this review summarize and discuss the collective findings novel insights regarding diagnosing, testing, presentation (PMM). PMM results from a disruption oxidative phosphorylation (OXPHOS) chain in mitochondria mutations DNA (mtDNA) or nuclear (nDNA). Although there are many named syndromes caused mutations, will focus on PMM, which disorders mainly affecting, but not limited to, skeletal muscle. Clinical may include muscle weakness, exercise intolerance, myalgia, rhabdomyolysis. respiratory function most frequently affected their high energy demand, multisystem dysfunction also occur, lead inclusion myopathies differential. Currently, no effective disease-modifying treatments, treatment programs typically only managing symptomatic manifestations disease. field has large unmet need options, diagnostic pathways better understood can help shorten journey aid disease management trial enrollment.
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ژورنال
عنوان ژورنال: Muscles
سال: 2023
ISSN: ['2813-0413']
DOI: https://doi.org/10.3390/muscles2010007