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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.
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 Αυγ 2024 · Bisphosphonates are often the first choice for osteoporosis treatment. These include: Alendronate (Fosamax), a weekly pill. Risedronate (Actonel, Atelvia), a weekly or monthly pill. Ibandronate, a monthly pill or quarterly intravenous (IV) infusion. Zoledronic acid (Reclast), an annual IV infusion.
This review is aimed at a general medical and neurologist readership and provides a clinical approach to the recognition, investigation, and treatment of mitochondrial myopathies. Emphasis is placed on practical management considerations while including some recent updates in the field.
Both nonpharmacological therapy (calcium and vitamin D supplementation, weight-bearing exercise, and fall prevention) and pharmacological treatments (antiresorptive and anabolic agents) may be helpful in the prevention and treatment of osteoporosis.
Speech therapy, physical therapy, and respiratory therapy have been used in mitochondrial diseases with variable results. These therapies are not curative and at best help with maintaining a patient’s current abilities to move and function. Keywords: Genetic mutations, Pathology, Treatment. Introduction.
Patients are at risk of associated dysphagia, respiratory insufficiency, cardiomyopathy, exercise intolerance, myalgia, fatigue, and infrequently rhabdomyolysis. Mitochondrial myopathies do not typically lead to marked baseline elevations in creatine kinase (CK) (with the exception of the myopathic form of TK2-related mitochondrial disease).