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12 Ιουν 2024 · Specialists in the Mitochondrial Disease Clinic evaluate many types of mitochondrial diseases. Alpers progressive sclerosing poliodystrophy (Alpers disease). Barth syndrome.
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.
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.
24 Φεβ 2024 · Treatment. Treatment recommendations are often based on an estimate of your risk of breaking a bone in the next 10 years using information such as the bone density test. If your risk isn't high, treatment might not include medication and might focus instead on modifying risk factors for bone loss and falls.
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).
Mitochondrial myopathies are progressive muscle conditions caused primarily by the impairment of oxidative phosphorylation (OXPHOS) in the mitochondria. This causes a deficit in energy production in the form of adenosine triphosphate (ATP), particularly in skeletal muscle.
7 Νοε 2018 · The diagnosis of mitochondrial myopathy is reliant on the combination of numerous techniques including traditional histochemical, immunohistochemical, and biochemical testing combined with the fast-emerging molecular genetic techniques, namely next-generation sequencing (NGS).