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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.
15 Σεπ 2024 · Has there been more information about Mitochondria myopathy as of yet? Been suffering for years, seizures have started, and it is slowly getting worse despite not over doing it.
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 disorders are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain. Muscle tissue is highly metabolically active, and therefore myopathy is a common element of the clinical presentation of these disorders, although this may be overshadowed by central neurological features.
Gavrilova studies mitochondrial myopathy, multisystemic mitochondrial diseases, Friedreich's ataxia and neurodegenerative conditions that involve mitochondrial dysfunction, such as dementia. Another area of Dr. Gavrilova's clinical focus is hereditary leukodystrophies.
