Adult onset mitochondrial myopathy
Mitochondrial diseases are caused by defects in mitochondria, which are energy factories found inside almost all the cells in the body. A typical human cell relies on hundreds of mitochondria to meet its energy needs. The symptoms of mitochondrial disease vary, because a person can have a unique mixture of healthy and defective mitochondria, with a unique distribution in the body. In most cases, mitochondrial disease is a multisystem disorder affecting more than one type of cell, tissue, or organ. Because muscle and nerve cells have especially high energy needs, muscular and neurological problems are common features of mitochondrial disease. Other frequent complications include impaired vision, cardiac arrhythmia abnormal heartbeat , diabetes, and stunted growth.




Mitochondrial disease clinical manifestations: An overview




Adult-onset mitochondrial myopathy.
Mitochondrial Genetics and Epigenetics View all 13 Articles. Mitochondrial complex I deficiency is associated with a diverse range of clinical phenotypes and can arise due to either mitochondrial DNA mtDNA or nuclear gene defects. We investigated two adult patients who exhibited non-syndromic neurological features and evidence of isolated mitochondrial complex I deficiency in skeletal muscle biopsies. The first presented with indolent myopathy, progressive since age 17, while the second developed deafness around age 20 and other relapsing-remitting neurological symptoms since. A novel, likely de novo, frameshift variant in MT-ND6 m.



Mitochondrial Myopathy Fact Sheet
Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical feature. Mitochondrial pathology was confirmed by evidence of ragged-red fibres in muscle histochemistry, an abnormal mitochondrial morphology in electron microscopy and by exclusion of other underlying diseases.





Isolated mitochondrial myopathy refers to the condition of mitochondrial disorders that primarily affect the skeletal muscle system. Here we report on a case of a patient who presented with acute respiratory failure as the initial and predominant clinical manifestation after using anesthetic drugs. The diagnosis of mitochondrial myopathy was made by histochemical findings of ragged red fibers with a modified Gomori trichrome Stain in the skeletal muscle biopsy and the genetic detection of an AG point mutation in the tRNA Leu UUR gene of mitochondrial DNA mtDNA in a peripheral blood specimen. The patient revealed a benign clinical outcome with ventilator assistance and a cocktail treatment. Further, we performed a literature review on patients with respiratory failure as the early and predominant manifestation in adult-onset isolated mitochondrial myopathy.

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