Could I possibly have MD? - Muscular Dystrophy Message Board

mom22angels · 03-01-2009, 01:43 PM

Hello all,

I am a 46 year old female, wife, mother of 2. I have been relatively healthy all of my life with the exception of high cholesterol, and non-specific tachycardia that has resolved for 5 years now. Forgot to add...basal cell carcinoma of the skin X3.

Over the past 2 years I had noticed increased fatigue, muscle pain all over but concentrated more in my thighs and back, heart palpitations, left hip and knee pain and in the past year noticed increased muscle weakness, dizziness. Have noticed trouble with shortness of breath with minimal activity in the past 6 months and difficulty at times with memory recall or not being able to think of the word I want to say. In the past 4 months have noticed a continuous fine tremor at all times. I notice it especially when I am doing fine skills such as attempting to put a label on a small bottle. My husband and co-workers have noticed it at all times.

All previous routine blood work and x-rays have always come back normal except for the occasional anemia with my MCV and MCH being low. They would tell me to take iron supplements and then the blood work would come back normal.

Then about 5 months ago my allergist did some different blood work on me. Showed abnormal serum protein electrophoresis with an M-Spike. Further testing showed the abnormal protein to be a monoclonal IgG lambda protein. At first they thought I might have Lupus so I was sent to a rheumatologist and he said it was not Lupus. He suggested a hematologist. The hematologist did bone marrow biopsy and it had no cancer so he says I have MGUS (monoclonal gammopathy of unknown specification) and just need to have the blood work and urine done every six months. Due to my other symptoms he did do a bone survey (x-rays)(negative except for some degeneration in thoracic spine), and an echocardiogram (normal). He is still stumped as to what is causing my symptoms and seems to not be sure where to go from here. He did have me go for a pulmonary function test Friday and I do not know the results of this test yet.

With all of the blood work this hematologist did...he even tested for Lyme, rocky mountain spotted fever, Epstein-Barr, Typhus, Parvovirus, Toxoplasma, and Brucella to name a few. All negative although the IgG was high on the Parvo and Epstein because I have been exposed to them, but nothing active... there were just a few abnormalities....

CBC

MPV 7.2 L
Mono# 0.7 H

Special Chemistry

Folate >20.0 H
Ferratin 14 L

Sed Rate 24 H

Creatine Kinase (CK) 151 H

The protein electrophoresis showed a high ALPHA-2 with the IgG Lambda monoclonal gammopathy and light chains. The M-spike was low in concentration.

The only thing abnormal on the bone marrow biopsy was that there were "insufficient plasma cells observed. This result does not exclude the presence of a plasma cell proliferative disorder." Not sure what that means.

The only other thing that was abnormal was my PTT (bleeding time). It was high the first time at 45.7 so he drew more and sent it to the Mayo Clinic in Rochester, MN for their panel. The APTT was normal at 23 but it did show an elevated D-Dimer and a high DRVVT Screen Ration.

I was thinking of asking my hematologist when I hear from him about the PFT if he thinks I might have MD, or something neuromuscular. I found this forum and decided to ask opinions here also.

I have always been healthy and being a nurse I don't like "complaining"...lol. But I have had to make it an effort for months now to just keep moving. I thought at first I'm just getting out of shape and older so my husband and I started walking a mile 3 times a week and after 2 months it was getting harder and harder for me with the muscle weakness and getting shorter of breath. So if I am just out of shape it should have been getting easier, right? I get so weak at times that I'm almost positive that I am not going to make it another step.

Any ideas from anyone would be greatly appreciated!! And I am keeping all of you whose stories I have read on here in my prayers.

Thank you and God bless,
mom22angels

michigani · 03-05-2009, 09:37 AM

"mom"

I understand completely the frustrations of not getting a diagnosis. I DO have a confirmed muscular dystrophy. We just don't know what type. There are 70+ types and only 20-30 can be proved through DNA testing etc. But my muscles are slowly dissolving every year.

My first impression is that it's probably not a Muscular Dystrophy. Your CK is barely elevated (normal is 80-120). Mine is 500 and I have a mild MD. CK leaks into your blood when a muscle cell dies, so the worse the MD, the higher the CK level.

You should definitely see a good neurologist or a diagnostician (Like Dr. House, but hopefully nicer!) I do not want to try to diagnose you. I'm no doctor but I've spent 100's of hours researching Muscular Dystrophy trying to figure out my own case. Pain is usually not a big factor in MD. The muscle deterioration is generally painless in 70% of the cases.

Have you looked into Multiple Sclerosis or ALS? They are both nerve-related illnesses. ALS is very rapid, I hope that's not the case. I wish you the very best.

mom22angels · 03-06-2009, 05:33 AM

Thank you Michigani for your input. Yes, I have thought of ALS, MS and even Parkinson's too. I just need to keep having tests done I suppose and see what they come up with.

Momack · 08-31-2009, 09:50 PM

I'm going through some of the same issues as you. I had a similar finding in my electrophoresis. Did he check your kidneys? I've been wondering if I could have amyloidosis.
Hope all is well with you.

Thank you Michigani for your input. Yes, I have thought of ALS, MS and even Parkinson's too. I just need to keep having tests done I suppose and see what they come up with.[/QUOTE]

mom22angels · 09-01-2009, 06:48 PM

Momack,

They have checked pretty much everything at this point. I have even seen a neurologist and had an MRI of my brain which showed what he called some "dots and spots" in both parietal lobes which can be connected to HTN or migraines, neither of which I have, but mostly they are "non-specific".

So I am done for now with the testing. I will continue with the hematologist every six months to keep an eye on the abnormal protein spike, but for the rest I will just have to live with and keep coping. I have been trying to eat a healthier diet and have started exercising daily. I still have episodes where I get very shaky, weak and have no energy and my lips and fingers tingle, but I know it is not my sugar or my heart anymore so I just rest through those episodes. I continue to have fine quivering in both of my hands and arms but I have learned to just be very careful and concentrate when i do any fine motor skills.