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Muscle weakness progression

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stevielynn
stevielynn

Hi everyone, I'm a 32 year old female. I am pretty close to receiving a diagnosis--I have an appt on the 21st to go over my muscle biopsy results. Just reaching out more for the sake of community as I feel pretty alone and don't want to wear down my family and friends with my neuroticism surrounding this. I'd like to share my story/symptoms...if that's okay. I promise to update when I find out what it is. 

The symptoms that started me on this journey started about 4 years ago when my middle child turned 1. Just fatigue and joint pain--with a mildly elevated RA factor led me to my rheumatologist. RA factor returned to normal after going gluten free but the fatigue remained. I started the GAPS diet and felt phenomenal, better than I had in years. I felt confident that I had control over it now. 

At the end of August, though it all changed. I'm not sure what triggered it, [possibly a deficiency in calcium, because dairy was causing some of my gastro symptoms and I wasn't eating enough dark leafy greens to compensate]. Anyway I had an episode where I thought I smelled smoke in Target and my vision blacked out for a split second. Heart started racing and felt like I couldnt catch my breath. I left when I felt better and while driving home in the rain, ambulances with their sirens were rushing by and I felt stressed---so then my heart started racing uncontrollably and I felt I couldn't breathe. I went to the urgent care, they sent me to the ER, where the dr suggested seeing a neurologist.  After that episode all of the fatigue and joint pain in my hips came back. I thought it would wane but it never went away. By November I was having trouble climbing the stairs without feeling like my legs were going to quit. My heart would race and I felt like I couldn't breathe again. I had a rheumatologist appt on the 13th of Nov and told her the whole story. She was intrigued, and stood to do an exam. She instructed me to lift my knee while sitting and told me to not let her push it down. I couldn't push against her. This happened in both legs. She sent me for an EMG right away which revealed myopathy in every muscle tested without membrane instability--the nerve conduction study was normal. By the weekend I was admitted to the hospital because the weakness had progressed to  the point where I could barely walk and my upper arms were suddenly as weak as my legs. I was losing my breath and feeling dizzy from just wiping my cabinets down. I had also lost seven pounds from Monday to Saturday. My muscles were wasting away, you could see the bones in my arms, all of my collar bone and my upper thigh had deteriorated, so that my leg wasn't the same shape as before. At night, I would wake up gasping for air and then my heart would race again. I was so worried that my heart was affected by whatever was causing the other myopathy.

In the hospital they did the muscle biopsy and an echocardiogram. The echo was normal, thankfully. The breathing issues appear to be from a weakened diaphragm and other abdominal muscles used in breathing--so laying flat, the act of standing/sitting, reaching above my head all cause my oxygen levels to drop and my heart rate to speed up. 

What is strange to me is that in addition to exertion, any amount of stress seems to cause significant muscle weakness, even what I would consider good stress--the kind that energizes me, like family visiting or getting ready to host a party--something Im looking forward to. There seems to be a strange misfiring--miscommunication where my body just wants to shut down. WHen I google this, there do seem to be medical articles that discuss oxidative stress and muscle performance, and the neurological role of stress on our body--but it seems strange for it to be so severe. 

I guess I'll know more when I get the results next week. It's just driving me nuts waiting and not knowing. From what I gathered based on the EMG, and what the neurologists said at the hospital they are suspecting either a form of muscular dystrophy or a mitochondrial muscle disease. 

If you read all of that, you are a saint, and I thank you. Guess I don't really have a true question but I welcome all personal experiences to be shared. Thanks!

 

0 likes, 5 replies

5 Replies

  • will24
    will24 stevielynn

    Posted

    one bit of advice.. do not get your hopes up for a diagnosis, my muscle biopsy was done in dec 2016 and i was told it was remarkable for minicore myopathy. still waiting for a diagnosis... the specialist qualified to diagnosis me took 6 months to get into and all she said was "well even if i diagnosis you their is no treatment, so i will see you for follow up in another 6 months and we will see about a diagnosis then"

    • stevielynn
      stevielynn will24

      Posted

      That is really disheartening. What an awful thing to say to you--a diagnosis is worthy whether there is treatment for it or not. What purpose does waiting 6 months really serve? When do you go back to her? Did you have an EMG before your muscle biopsy? 

      I have not allowed myself to think about that possibility--I called to see if I could get some preliminary results before the appt--I had to leave a message. I missed the nurse's return call and in the voicemail she left me she said that while the results were in, I needed to speak with the dr about his review and the treatment. I will be crushed if there is nothing definitive. They also scheduled another EMG for the day before I get my results. I don't know. I'll keep you guys updated though.

    • will24
      will24 stevielynn

      Posted

      yeah. have had 2 emgs, one myopathic , the other non specific findings. The only thing the biopsy showed was minicores in both fiber types which were verified by the electron microscope as areas with myofibullar disruption and z line streaming. which is the only thing that will show in minicore myopathy. I was then sent for genetic testing which showed 3 Ultra  rare mutations in the titin gene, that have never been reported in literature. (titin can cause minicore myopathy as well as heart problems) and was sent to the specialist for a diagnosis, and instead she sent back to my familiy doctor that my biopsy showed non specific findings and that she got the impression i was stressed during the appt. and wants a follow up in 6 months.

      If she wants to see stressed my next appt with her is going to go something like this l" Hear is the diagnostic criteria for minicore myopathy on the government site, if my biopsy showed non specfic findings how do i go about notifying government their site has the wrong information on it.

      If you cant tell i hate the medical system.

  • rhodri21244
    rhodri21244 stevielynn

    Posted

    I am also waiting for the results from the neurologist after scan on head and neck ,blood tests and nerve conduction studies. I do not know why it needs such a long time getting an answer. Why cannot someone invent a machine that does all the tests and gives an immediate diagnosis. Let me knowhow you get on. Have you looked in to fibromyalgia which is quite common but difficult to diagnose . Rhodri.
    • stevielynn
      stevielynn rhodri21244

      Posted

      Thanks Rhodri.

      Yes, I cannot figure out why things take as long as they do either. Such a machine would be amazing. A thing of the future! 

      I actually just had an appt a week ago where it was mentioned. I was skeptical because I was sure fibro meant wide spread and constant pain and I am not in pain at all. However, the article he gave me said it could be described as muscle soreness as well---which I don't really have much of either but it's more plausible. He suspected it because I do have TMJ and IBS and then he pushed on some pressure points and I nearly came out of my skin. It wasn't pain it just sent shudders down me. He believed though, that the muscle weakness was a joint condition with fibro. 

      I will let you know when I know...and please let us know when your results come back as well! Best of luck!

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