On year 5 of DX!

[Michael2165]

5 Years ago drop foot lasted 6 months. Then cramping, stiffness. 2 Years later weakness set in. Fasciculations the whole time.

2 EMGs revealed no ALS. After 4 years my insurance company hire Grand Rounds (an independent professional opinion) to access my records from 2012 to now. Their professional opinion was PLS. I have been told UMN lesion by a Dr in year 3.

Since it was not face to face it was not a real Dx.

After the devastating news from Grand Rounds, a month later I saw the head of Neurology at USF. His opinion no. Because my hyporeflexive was not strong enough. He went with Myotonic only to be wrong.

I requested an appointment with their ALS dept to get another opinion. Finally someone addressed my weakness. When i described it he noticed it was more exercise intolerance than true weakness. He said "This doesn't smell like a MND" He quickly went to Mitochondrial Myopathy.

I used to be able to do repetitious movement but now they stop me in my tracks. I can only shrug my shoulders 6 times before they just stop. He ordered 2 blood tests CPK and Lactic. The CPK came down from a year ago to now from 135 to 44. He also asked for muscle biopsy. Once the lactic acid test came back I have heard nothing. My levels were normal.

In the past month my intercostal (Rib muscles ) have been hurting and I am short of breath.

Five Years still no answer. It looks like they are cancelling the biopsy, still waiting on response.

Thoughts and thanks!

 

[Michael2165]

PS. My latest EMG showed myotonic discharges.

 

[Atsugi]

Do you still have that foot drop?

Can you walk, talk, write, dress yourself, go to the bathroom, sit down, stand up?

 

[Michael2165]

Thanks. Foot drop is gone. I live alone and adl's are hard. I have been cleared by my employer long term dissability.

I will be paid until 2032 so financial is not my issue. I just want to know how to plan my life.

MND subtleties are so variable that I fear they are afraid to pull the trigger.

Of course I don't want MND. But Mito is not so good either.

I have a very hard time living alone. Dressing is hard and I fall a lot. I can stand for 5 minutes and i can walk normal gait 5 steps. If I shuffle I get much further. Bending over at a counter is the hardest with picking up stuff. The muscles i use the most are most hindered.

 

[KimT]

Do you have atrophy? Do you have muscle pain?

 

[Michael2165]

I have pain from stiffness and cramping. I gained weight at first now losing weight. My cloths fit looser and my muscles are atrophying while my gut gets bigger. So weight wise is hard to tell. My CPK dropped so much it sort of says I lost muscle mass.

The stiffness and cramping are keeping my muscles active. My biggest issue is exercise intolerance. I can only walk 5 feet. The best part is I am Mr. Positive! What is come i know I can fight this. I just need to know what I am fighting!

 

[Michael2165]

Do you still have that foot drop?

Can you walk, talk, write, dress yourself, go to the bathroom, sit down, stand up?

i can sit down...plopping with ease. Getting up without ar assistance is hard.

 

[lgelb]

Was myotonic dystrophy and other adult-onset muscular dystrophy ruled out?

 

[Michael2165]

Thanks and actually i asked this 2 visits ago....ruled out.

 

[Atsugi]

A fuzzy picture is emerging that doesn't resemble ALS. I get two things out of this:

Your complaints are centering around muscles. ALS is a problem in the brain, not at the muscle.

Possibly an important question: Why are you living alone?

You said you are falling down. Describe that. Slow, predictable lowering to the floor? Suddenly a knee buckles? Do ALL of your muscles go limp? I wonder if you're having seizures.

 

[Michael2165]

Thanks. The falls are sometimes fast others balance issues. But you a correct. My Dr. Just ordered a muscle bx they now think Metabolic Myopathy and it is not a brain issue.

Good call! Starting to look more mitochondrial.

 

[Michael2165]

Was myotonic dystrophy and other adult-onset muscular dystrophy ruled out?

I was wrong MMD was not ruled out and my upcoming muscle biopsy will reveal it if it is there

 

[Michael2165]

Update:

Ugh! The ALS doc has ordered a Muscle biopsy. He thinks my weakness sounds more like Mitochondria. I do not remember any pain in that foot. It did go numb before the foot drop. When I visited him I said "so the Myotonic discharges ruled out ALS...he said mmm not necessarily. I took Xanax before the visit I was so nervous I kind of glossed it over.

Today I got my referral for the biopsy and the diagnostic codes included G12.21, ALS. So I guess ALS is not off the table. Fasciculations still all over my body (even when I thought I didn't have any the docs say they can feel them). I still have intercostal rib pains and breathing is just a bit more difficult. I am really praying that it is Mitochondrial Myopathy.

 

[LizF]

Hopefully, you will get a definitive answer with the muscle biopsy. I presented atypically, and even with multiple EMG's, three different neurologists felt it was likely I had polymyositis. The muscle biopsy was definitive, with the pattern of denervation quite clear for ALS. I hope you get a different answer!

 

[Michael2165]

Thank you! I do too. Honestly it looks like some diagnosed people here wish they had it. It's odd. I am glad they are doing there do diligence. Thanks for the well wishes. Biopsy 4/21 results 4-6 weeks later. Be well