Primary mitochondrial myopathies are rare but not so rare and frequently are underdiagnosed. So considering that there are treatments coming soon, we should recognize these diseases, right? So we should imagine that we have several red flags that can help the clinician think about mitochondrial origin of the disease of the patient. Most of our patients will develop so-called progressive external ophthalmoplegia, so they cannot move the eyes...
Primary mitochondrial myopathies are rare but not so rare and frequently are underdiagnosed. So considering that there are treatments coming soon, we should recognize these diseases, right? So we should imagine that we have several red flags that can help the clinician think about mitochondrial origin of the disease of the patient. Most of our patients will develop so-called progressive external ophthalmoplegia, so they cannot move the eyes. They have a ptosis. In most cases, we also have a metabolic manifestation, meaning that most of the patients will have exercise intolerance, fatigue. They have muscle pain, both at rest or after exercise and they may also develop during the disease course also swallowing impairments, respiratory problems and a fixed muscle weakness and muscle wasting. So it’s not very different the clinical manifestation compared to other genetic myopathies but at least the presence of progressive external ophthalmoplegia should raise a suspicion of mitochondrial origin of the disease.
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