Ok I’m happy that I have a diagnosis. It sounds stupid. But I am. I am happy because I have been doing the right thing all along by not pushing my limits. I accept the fact that I should still exercise within my limits. But now I know I was right when I kept saying to people ‘No, the pain doesn’t go away, it doesn’t get better!’. I can say with all my sincerity ‘Shut the fuck up!’ next time somebody says something on this matter!
After browsing through dystrophy and myopathy catalogs, trying to match my symptoms and findings… Muscle biopsy lands the diagnosis: tubular aggregate myopathy. A rare type of myopathy with only major finding being the tubular aggregates in muscle fibres. I believe it is more common than they think. If you have this slow-progressive degenerative disease, you are most likely to avoid painful activities. Limit yourself to a life with little physical activity, find a job that doesn’t require muscle power, live a life with no so bad symptoms and never ever see a doctor for it. To be honest I wouldn’t see a doctor if it wasn’t the diagnosis my brother had (well increase in pain and difficulty climbing stairs during the last coupe of years of course contributed greatly to the decision of seeing a doctor).
It’s progressing slowly, in some cases not progressing at all. But one thing is for sure. If you think you are going to gain strength by ignoring the pain and overexercising, YOU ARE DOOMED. This is not Lorenzo’s Oil. This finding is established by patients themselves. When they overexercise and push their limits, the disease got worse (from what I read online). That said your TAM, may not be my TAM. I rock at toe-walking, you may not. I have fatigue, you may not. You may have lost your ability to walk, I did not. Two things remains the same. Firs one is the pain in skeletal muscles. Second one is the major finding; the tubular aggregates in both muscle fibres (EMG, EEG, CK levels may be normal). I should also note that mutations (oh yes baby, it is a genetic disorder) causing the disease could be both de novo or inherited. It can be autosomal recessive or autosomal dominant. It could appear only in males or it might hit both genders in the family.
What I am trying to say in summary, there are subtypes of this disease. I’m not sure if there is an official definition of these subtypes. It’s been around 50 years since first they identified tubular aggregates in muscle diseases, all credit goes to Enkel. As you can guess 50 years is a really short time to establish anything for such rare diseases. How would you get funded for it when it is this rare? No, no don’t loose hope yet. Advances in imaging techniques and genetic screenings are our allies. There are scientists out there who identified one or two potential candidates (mutated genes). I’m not saying there will be any drugs to ease the symptoms anytime soon. But I believe understanding the metabolism of the disease is one of the greatest cures one can get!
Here are the articles, sorted by date: Google Scholar.
It’s not deadly. If I take care, I will live a long, happy life in which I get to say many times to people who makes me feel bad about not being active in sports ‘Shut the fuck up!’.