Mitochondrial myopathies are diseases that manifest from damaged or defective mitochondria. Mitochondria are cellular organelles tasked with producing energy needed for cells functioning. The manifestation of mitochondrial myopathies stems from the destruction of oxidative phosphorylation in cellular mitochondria. The authors surmise that mitochondrial myopathies stem directly from mitochondria inability to undergo phosphorylation to facilitate energy production. Impairment of mitochondria functioning causes a deficiency of adenosine triphosphate energy, especially in the skeletal muscles (Ahmed et al., 2018). The subsequent diagnosis of the abovementioned clinical disorder involves wide-ranging techniques including biochemical, immunohistochemical, and histochemical testing. With newly emerging genetic methods, myopathies diagnosis has become most effective, especially concerning determining of new and causative gene elements. Ahmed et al. (2018) ascertain that mitochondrial diseases denote a significant group of progressive muscular conditions. Mitochondria undergo the process of oxidative phosphorylation to create the energy needed for sustaining mammalian cellular functions. Ahmed et al. (2018) ascertain that one of two genomes, namely nuclear and mitochondrial genomes determines the normal functioning of mitochondria in mammalian cells. By this token of logic, there is a high probability that the prevalence of mitochondrial diseases may directly result from genetic mutations in the genomes above. Manifestation of mitochondrial myopathies is therefore drawn from a diverse hereditary factors, including autosomal dominant, autosomal recessive, X-linked, and maternal mitochondrial DNA (Ahmed et al., 2018). Patients diagnosed with mitochondrial myopathy exhibit wide-ranging phenotypes due to underlying comorbidities such as stroke-like episodes, epilepsy, and cardiomyopathy (Ahmed et al., 2018). Mitochondrial myopathies comprise a broader spectrum of disorders that present with occurrences of myriad hepatic, muscular, gastrointestinal, and neurological disorders. Therefore, clinical symptoms include optic atrophy, external ophthalmoplegia, cardiomyopathy, diabetes, hepatic steatosis and liver failure, kidney failure, Fanconi syndrome, cramps, muscle weakness, and chronic diarrhea (Ahmed et al., 2018). The authors surmise that diagnosis of mitochondrial disease increasingly entails using a variety of investigative studies. These include immunohistochemical or histological studies, genome analysis of the mitochondrial DNA, history and physical assessment, and enzymatic examination of oxidative phosphorylation complexes. Currently, mitochondrial myopathies lack available treatment interventions. In particular, available treatment options aim to improve the health of most afflicted patients. Available treatment options include reproductive options (involving the donation of sperms and ova to hamper inheritance of defective genes) and ubiquinone analog and ubiquinone.
Mitochondrial diseases are diseases that increasingly manifest through defective mitochondria. Mitochondria are the primary organelles that facilitate the production of energy (“Mitochondrial Myopathy Fact Sheet” (n.d.). Mitochondrial myopathies are clinical conditions that widely manifest from mitochondrial diseases that end up causing muscular pathologies. Encephalomyopathies refer to mitochondrial illnesses that affect both neurological and muscular problems. A mammalian cell increasingly depends on myriad mitochondria for energy production needed for the sustenance of its functions. The most commonly affected cells are nerve and muscle cells owing to their higher energy requirements than other cells in the body. Symptoms of mitochondrial myopathy include but are not limited to an abnormal heartbeat (cardiac arrhythmia), dwarfism (stunted growth), poor vision, and diabetes (“Mitochondrial Myopathy Fact Sheet,” n.d.). In some instances, mitochondrial diseases affect several types of organs, tissues, and cells. Manifestation of mitochondrial diseases stems primarily from mutations of specific genomes, namely mitochondrial and nuclear genomes. Clinical features of various mitochondrial myopathies are diverse and depend on the muscle type or tissue affected by the disease. In particular, the primary symptoms of mitochondrial disease that affect other muscles and tissues include intolerance to exercises, wasting muscles, and general weakness (“Mitochondrial Myopathy Fact Sheet,” n.d.). Most patients experience muscular myopathy involving weakness of muscles known to control eyelid and eye movements leading to the development of a condition referred to as ptosis. This condition comprises the sagging of the upper eyelids. Additionally, wasting away of said muscles also leads to the manifestation of progressive external ophthalmoplegia (“Mitochondrial Myopathy Fact Sheet” (n.d.). This condition results in the gradual loss of the ability to control one’s eye movements. The present disease can also spark the manifestation of a weaker neck and facial muscles, leading to speech development and swallowing difficulties (“Mitochondrial Myopathy Fact Sheet” (n.d.). Weakness is also experienced in the legs and arms of afflicted persons. Specific treatments for mitochondrial myopathy include administration of over-the-counter L-carnitine medication to supplement the production of energy in defective mitochondria (“Mitochondrial Myopathy Fact Sheet” n.d.). Nonetheless, the use of ubiquinone (also known as coenzyme Q10) also provided effective treatment intervention for patients with mitochondrial myopathy.
The article and website mentioned above increasingly aim to inform the worldviews of persons afflicted with mitochondrial myopathies. Each of the sources provides clear-cut ideas regarding the diagnosis and treatment options for managing the condition. Nonetheless, this information could also be useful to researchers, medical scholars, and medical professionals. The information can help them further their investigation on better treatment and diagnostic interventions for detecting and managing mitochondrial diseases. A non-scientist may equally find the above information useful as the sources contain detailed information regarding the causes, diagnosis, and treatment of the disease. From a personal standpoint, I strongly opine that each of the sources used herein provided definitive and rigorous research in mentioning the diagnostic and treatment interventions for the present disease.
Ahmed, S. T., Craven, L., Russell, O. M., Turnbull, D. M., & Vincent, A. E. (2018). Diagnosis and treatment of mitochondrial myopathies. Neurotherapeutics, 15(4), 943-953.
Mitochondrial Myopathy Fact Sheet. (n.d.). National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mitochondrial-Myopathy-Fact-Sheet