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12 Ιουν 2024 · Mitochondrial disease results from failure of mitochondria to function properly. This can lead to less energy, cell injury and cell death. The most common organs that may experience damage are the brain, heart, liver, muscles, kidneys and the endocrine system.
Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk family members.
14 Φεβ 2024 · We performed a retrospective chart review of adult patients diagnosed with mitochondrial myopathy at Mayo Clinic (2005–21). We identified 94 patients. Median time from symptom onset to diagnosis was 11 years (interquartile range 4–21 years). Median age at diagnosis was 48 years (32–63 years).
28 Σεπ 2021 · Ann Moyer, M.D., Ph.D., explains how Mayo Clinic Laboratories' unique genetic tests identify patients at high risk of severe reactions to fluoropyrimidines — a type of chemotherapy drug. Test results can guide clinical decision-making for safer cancer treatment.
Furthermore, acquired mitochondrial toxicity and medication effects may also affect the muscle biopsy or other test results to mimic those seen in a primary mitochondrial disorder, as may the effects of healthy ageing .
Mitochondrial myopathies are mitochondrial diseases that cause prominent muscular symptoms such as muscle weakness and usually present with a multitude of symptoms and can affect virtually all organ systems. There is no cure for these diseases as of today. Treatment is generally supportive and emphasizes symptom management.
20 Δεκ 2022 · The purpose of this study is to evaluate the effectiveness, safety and tolerability of ASP0367 in participants with Primary Mitochondrial Myopathy (PMM). Participation eligibility. Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns.
