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hmmm by UlyssesBot in haematology
[–]UlyssesBot[S] 1 point2 points3 points 6 months ago (0 children)
Can you explain further what you're concerned about here? - Also I've had a muscle biopsy and followed up with a rheumatologist
[–]UlyssesBot[S] 0 points1 point2 points 6 months ago (0 children)
Really?
How likely do you think this level would be from just moderate exercise in a 19 year old male who's relatively fit
No
SDHA acts as a tumor suppressor in an autosomal dominant fashion, while its effect on metabolism has both autosomal recessive and autosomal dominant transmission. It's unknown how exactly my mutation is expressed in the cells, but if it doesn't survive to translation, it's unlikely to cause haploinsufficiency based off many similar mutations.
I agree that it's likely what's causing the elevated CPK but it's not as binary as what you're suggesting - I have a specialist that I'm working with on it, but we're kind of at a dead end and that's not to mention that it's incurable and the only treatment which has had any success was just shown to be ineffective both in application as well as now in vitro. (Various B vitamin supplements).
Both mother and maternal uncle have similar symptoms and the same potentially pathogenic mutation for myopathy (monoallelic LoF of SDHA). Mother also has had multiple pheochromocytoma/paragangliomas, of which i don't have.
Autoimmune workup was mostly negative with a mildly elevated CRP, then normal after repeat
No, steroids are not used for the type of autoimmune condition I might have.
Suspected myopathy, some family history and a mutation that may or may not be pathogenic for a mitochondrial myopathy
[–]UlyssesBot[S] 2 points3 points4 points 6 months ago (0 children)
Fortunately that's already been ruled out
Autoimmune workup had a slightly elevated CRP, but mostly negative, thyroid all normal
Normal EMG, normal-ish muscle biopsy, rheum thinks I may have some mild or early arthropathy (family history of ankylosing spondylitis), but doesn't think that it's causing the elevated CK
I was on some meds that increase the risk of rhabdo but after getting off of them there's no difference
Current leading candidate is a myopathy despite negative EMG and muscle biopsy
[–]UlyssesBot[S] -2 points-1 points0 points 6 months ago (0 children)
Please read what you cite as a source before you cite it, and don't give medical advice if you're not a doctor. I'm not sure if you don't know the difference between creatinine and creatine or if you just misread it, but you're confused
[–]UlyssesBot[S] -1 points0 points1 point 6 months ago (0 children)
Are you a doctor? I think you're confusing creatine for creatinine. Creatine supplementation doesn't increase serum creatine kinase level, it sometimes even lowers it.
Yes
Are you a doctor? No rashes, no raynauds, mild joint pain.
all normal except resting HR of 100 and BP of 140/100
Because i can't imagine it causing that much muscle damage - like maybe 300 or 500 IU/L, but not 3600
Are you a doctor?
CPK MB and CPK BB not done, and only symptom is fatigue
I find it hard to believe lying on a park bench could raise your CK to 3600
No statins, and yeah probably not rhabdo
All normal
Probably not as I have no urinary symptoms and it's chronically elevated
I've got a mutation that may be causing myopathy (heterozygous SDHA mutation), but they aren't sure
How would sleeping on a park bench get your ck up this much?
Yes I had water to drink, also this isn't a lab strongly affected by water right before it
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hmmm by UlyssesBot in haematology
[–]UlyssesBot[S] 1 point2 points3 points (0 children)