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A little about me ,27 years old male-
About 5 years ago started having a hard time breathing at night, went from a weight of 210 pounds to 160 in 3 months, started getting weakness in hands, calfs, and face. went to doctors and discovered i had high potassium and liver count likely due to muscle breakdown, was sent for an emg which showed their may be a problem, was sent to als specialst who did another emg, was then sent for muscle biopsy and genetic testing.
Got muscle biopsy results last month and based on them was diagnosed with a rare myopathy causing progressive respiratory weakness and swallowing weakness. likely a multicore myopathy or a mitocondrial myopathy. currently waiting for more genetic testing to come back and part of the muscle biopsy was sent away for more advance testing.
Muscle biopsy report: unevenness of NADH-TR staining aswell as Cox staining with ill defined patchy areas in both muscle types of fibers. the electron microscope shows fibers with misalignment and rare foci with z line streaming and disruption of myofibrillar structure. sarcomeres possess thickened and fuzzy Z-lines occasional subsarcolemmal filamentous bodies are seen. there are fibers with mitochondrial aggregation, glycogrn aggregation is noted focally in occasional fibers at both subsarcolemmal and intermyofibrillar sites.
Their is currently no treatment a nd i cant take pain meds for muscle spasms as theyl make breathing weakness worse, specialst wants me to start using medical marijuana.
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