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Re: Neuromuscular lung failure

Stuart,

I'm so sorry to hear about your daughter's condition. I'm assuming you confirmed she doesn't have myotonic muscular dystrophy instead of Thomsen's. It's an easy DNA test. We don't have respiratory failure with MC, but definitely it is a possibility with MMD.

Other than that, my first thought it a brain stem or spinal injury. Has she been in any accidents? Did they do an MRI? Also has she seen a pulmonologist and cardiologist? I had respiratory and heart failure from pulmonary hypertension a few years ago that seems to have started with an infection called CMV (similar to mono).

I would encourage you to get her to Washington University in St. Louis for a workup as soon as possible. They have an excellent neuromuscular department.

Please let me know if I can help you with any contacts or arrangements.

Jan

Type of Myotonia: Thomsen's

Country: USA

Re: Neuromuscular lung failure

Jan, Thank you so much for your wisdom on all this. Sarah has Myotonia Congenita as confirmed by blood test but she also has Ulcerative Colitis in combination. The UC family has all sorts of weird offshoots and I am wondering if we are dealing with a "milkshake" here. She has had full cardiology work up by Mid-America Cardiology at KU, CT scans, many pulmonary function studies and you name it. She saw the critical care pulmonary team at KU Medical. Its very well documented failure of those darn muscles, we just don't know why. He said its not just the diaphragm but all of them including the rib cage. I will see about getting a referral to whoever at Washington University or Barnes or wherever. Let me know who might be good. We live just 4 hours from St. Louis. Sarah is having a real bad time at night now and we almost had her hauled off in an ambulance last night. Its really terrifying. She just cannot move those muscles even though everything else seems ok. She is very weak, as you might imagine. Stuart 816-792-7187 work 816-452-0948 home.

Type of Myotonia: Thomsen's

Country: United States

Re: Neuromuscular lung failure

Stuart:

I'm sorry to hear about your daughter. I occasionally have difficulty inhaling completely. I can get a shallow breath in, but the muscles that take that last deep bit don't seem to respond. It's uncomfortable but I seem to be getting enough oxygen as I don't get light headed or dizzy. It only happens once in a great while and I've never really discussed it with a doctor because it's one of my more minor problems, and I didn't think I would get anywhere either. My grandmother had myasthenia gravis and that is one possibility if it's not related to the MC.

They might test your daughter for that. Also, there is always a possibility she can have some type of muscular dystrophy on top of the MC. This has been found in at least one individual.

Other things that come to mind that I would ask about are multiple sclerosis, a small stroke, poisoning/toxin exposure....maybe some type of nerve problem. Have they checked her spinal cord for tumors?

I would be very hesitant to allow them to assume that it's the MC though, because there is not enough to substantiate that in life threatening situations.

This might be completely off base, but are they sure there is nothing in her chest cavity inhibiting the full expansion of her lungs or pushing on any vital nerves? A hiatal hernia can cause breathing issues (which might be my problem), though I've not heard of them being severe.

Type of Myotonia: Becker

Country: USA

Re: Neuromuscular lung failure

Update:

Apparently my sister, who does not appear to have MC, also has the breathing problem I have, and has apparently had is since she was 8.

Type of Myotonia: Becker

Country: USA