does anyone here have collagen VI myopathy?

Hi Saniyah

I have been diagnosed with CMD and have been clinically diagnosed further as having Ullrich which is a collagen VI related MD. I can put you in touch with an organisation called curecmd if you are not familiar with them and I am also a member of a Ullrich/Bethlem specific forum.

I know a few people that are married, some have written about their experiences on the curecmd site.

The website is http://www.curecmd.org. You will find a lot of info there and there is an online journal called CMD perspectives that might find interesting. You will find contact details there and you can also find them on facebook and twitter. Any problems, let me know.

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“mistyice26” No one understands my tiredness and muscle pains (with contractures of all my joints). It’s been very frustrating trying to push myself like regular/healthy people do when I feel so terrible afterwards. Please anyone share with me your experiences or just say hello. I would greatly appreciate it! I feel alone.

Welcome to the forum Misty.

We are glad you have found us.

You mention that you have difficulty explaining the tiredness and muscle problems that you experience and
how terrible you feel after exertion. We have been discussing this very subject on several threads recently. In
the last two weeks I have been in with two different doctors trying to explain that very thing and I just cannot
get across to the the exact level of tiredness that suddenly arrives. Here is the thread I set up
just a day ago on the subject. Is this what you are talking about, click on link below :-

viewtopic.php?f=2&t=3762

Good to have you on board Misty! I’m Sarah, I have probable Ullrich CMD – the other end of the spectrum to Bethlem I believe. Am awaiting a definite diagnosis at the moment. NothIng conclusive so far but clinically it is what I am thought to have.

Hi Sarah and Debra!! Well when I look back at pictures from when I was little I noticed that I’ve always had these contractures all over (fingers, hips, knees, elbows, ankles….you name it). It never really bothered me until I turned 14 (or hit puberty I’m guessing). Then my muscles started to hurt all the time. This pain was more of an “internal” pain that did NOT cause pain when you physically touched me. They hurt (and still do) internally almost like you had a really long exercise session and your muscles are just fatigued type-pain. This mainly involved my legs but as I’ve gotten older it’s involved my arms, shoulders and back too.

My main symptom, even above pain, is tiredness. I just get SO fatigued and no amount of sleep ever hurts. I find that just resting my body helps. I feel this especially after working out really hard or overdoing it mentally even. I tend to externalize my feelings physically through my body so that may be why that occurs after mental exhaustion.

I’ve been to the doctor’s and had ALL sorts of common and uncommon tests including: anemia, mono, pulmonary functioning, stress test, celiac blood panel, neurology visits to test for Multiple Sclerosis, thyroid functioning panels, adrenal gland saliva tests, Rheumatoid Arthritis and general arthritis check, plus many many more including depression. I’ve seen a total of 3 neurologists, which all confirmed I didn’t have Multiple Sclerosis (my mom has it). It was only by prodding the last one that I inquired on why my joints were deformed like they were. I happened to get lucky because it just so happens that this neurologist had special training in joint and tendon issues. He is the one who first recognized that the contractures were definitely uncommon for someone my age and did some research and came up with Bethlem Myopathy or Ullrich’s/Emergy Dreyfus. He sent me for a cardiac test to confirm Bethlem’s and everything came back good so he said that I most likely don’t have the other 2 and that Bethlem’s Myopathy was his clinical diagnosis. By the way he also ran some tests where he used a machine to “listen” to my muscles. He said they are mostly strong but there is a little abnormal amount of weakness. He suggested that I get gene testing for the Collagen VI categories or that I get a muscle biopsy. As my insurance doesn’t cover most of this I’ll have to pay out of pocket so I’m in the process of saving up and can hopefully soon get some gene testing done. Anyways, that’s my story in a nut shell. On appearance I look fairly normal (besides the joint contractures which you don’t even notice unless you are looking really closely for them). I notice the most “difference” from other healthy people when I exercise or on the times when I get tired easier than other after completely the same “easy” activity.

I want to lose some weight and have recently tried to start a pretty intense exercise program which resulted in my muslces being beyond fatigued and making me feel pretty sick for over a week. I’m not sure if exercising that hard actually damages anything or if it’s ok but it just makes me feel awful?? Anyone know? I’ve googled it before but there isn’t much information out there on this subject for BM.

Hi Mistyice, welcome to the forum. I have Mitochondrial myopathy and get easily fatigued but I also manage to exercise. I go to the gym with my husband and although I can’t much I do what I can. I’ve been going to the gym for about 25 years and it is part of my life now. It is sometimes a bit disheartening when I am staggering from one machine to another in a room full of fit people!But I remember what a consultant told me in 2007, he said that “if I hadn’t been going to the gym I would be in a wheelchair by now.” I do use a wheelchair outside of the house but indoors I manage by holding onto the furniture, walls, door frames or even crawling if I have to. But I know that the exercise is very important. I also try to do some exercise at home. Have you seen a neuro physio? They should be able to help you as you may be exercising too intensely!

Fatigue is a huge problem for me too. I am getting better at resting rather than trying to push myself. Sometimes I am so fatigued I can’t even speak. I just have to rest and eventually feel better again. It’s a vicious circle and sooo frustrating.

Take care
Val