Have restrictive lung disease from neuromuscular disorder....any ideas?????

[Sunnydaffy]

Hello all! I am a 32 year old female that has restrictive lung disease from what is apparently diaphragmatic myopathy of unknown cause. Presently, I am on O2 via NC day and night due to hypoxia and on BiPAP- settings 20 and 8 approx. 16 hours a day. My last spirometry showed a FEV1 and FVC in the neighborhood of 15-20% predicted for my age, gender and height (down from 40% in Dec. 2003). I have been progressively becoming worse- last Jan (2003) my PFT's were almost normal with the exception of abnormal lung mechanics (MVV, MIP and MEP were low). I have been through many tests- muscle biopsy which showed non-specific changes, an EMG (done last Jan) which did not show much abnormality at the time, a complete rheumatological workup-normal, CT scans of chest, MRI of head, many CXR's which show elevated hemidiaphragm and diaphragmatic fluroscopy in Jan of last year(normal at the time) and this past Dec. which showed essentially no movement of the diaphragm despite sniff manuvers. I also have lower extremety weakness, left greater than right and walk with a cane as well as use a wheelchair for long distances. I have been to a few neurologists who don't seem to know why this is happening, I have an impending appt. w/ a neurologist in Yale who will do more specific testing. I guess my question is does anyone have any theories as to why or what this is?? This has been going on for a year and a half now, and is quite frustrating to me as I don't know exactly what disease this is. Thank you in advance for any thoughts and advice,
SunnyDaffy

[Sunnydaffy]

Thank you so much for your response! I appreciate the links that you have provided also. The docs do seem to suspect a myopathy of sorts, I just hope to find out the name of this disease so that I can deal with it and go on with my life. I have tried to post in the Neurology forum but it is very difficult to do so- there seems to be a limited amount of questions they accept on a daily basis. I will keep you updated on what the doc in Yale has to say.  Thanks again! Take care, Sunnydaffy

[National Jewish]

Your progressive myopathy probably includes the accessory breathing muscles as well as your diaphragm.  Diaphragmatic pacing would not help, as your muscles are not able to respond to stimuli.  You need to see an expert in systemic myopathies to determine if there is any treatment to halt or possibly reverse this process.  The neurologist at Yale may be that person.  However if this specialist at Yale is not able to help you, find out from this doctor who could possibly help you and then go there.  Your condition has changed so much since you had your muscle biopsy.  Having a muscle biopsy done again may show changes that could identify your problem.  It