Natural History Study of Mitochondrial Myopathy
The goal of this observational study is to develop and validate tools to measure disease course in patients with primary mitochondrial myopathy (PMM). The main aims of this study are: * Development, validation, and optimization of objective outcome measures for mitochondrial myopathy * Defining the natural history of mitochondrial myopathy Researchers will compare data from patients with primary mitochondrial myopathy to healthy controls. Data from healthy controls will also help define normative data for future studies. Participants will perform clinical exams of muscle strength and endurance and will complete surveys.
• Males or females age 0-100 years of age
• Mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA OR is suitable for participation in the opinion of the investigator based on clinical presentation.
• Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease in the opinion of the investigator
• Able to provide written consent OR parental permission and child assent OR if they are an adult with diminished capacity, an LAR or healthcare representative is able to and willing to provide consent ., as approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC)
• Males or females age 0-100 years of age
• No history of mitochondrial myopathy symptoms
• Able to provide written consent or parental permission and child assent., approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC)
• Individual is not a study staff member or a family member of a study staff member (not listed as a study staff in eIRB)