8 years into this from italy .. and a lot of tests

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8 years into this from italy .. and a lot of tests

Postby joshi on February 1st, 2014, 7:17 pm

Hi everybody, i'm a 32 years guy from Italy.
My story starts 8 years ago (yes i have this "i don't know what since 8 years).
My symptoms are:

- Twiching everywhere,
- Breathlessness,
- General muscle sorenes if i press with my fingers on muscles (this symptom is present 24h and it is not exercise induced but it's like this with or without exercise, always there)
- A feeling of muscle fatigue (not so strong) in muscles even at rest. It's like a slight acid lactic feeling
- Trembling of muscle if i keep a position (isometric) like make a half smile, or doing something with fingers, or doing abs
- Tension in neck muscles (the feeling is like, well imagine if neck muscles were shorter so while i move right/left the neck i feel them to pull)
- Feeling of heavyness-stiffness on legs if i cycle.

In these 8 years i made a lot of test:

-7 EMG which were always normal but one in which they found few twiching (but no denervation) and based on that made me the BFS diagnosis
- CPK, LDH, ALDOLASE always normal
- Lactate at rest and after aerobic exercise made 2 times and it was normal ( inspite of my breathlessness)
- Lactate during anaerobic exercise (forearm ischaemic test) made once... this showed a normal rise in lactate but a little bit delay in coming back to the baseline situation
- 2 muscle biopsies and the results are strange: i made the biopsies in two different neuromuscular centers and both came back "normal", i mean the only thing strange was that there was a slight variability in the size of muscle fibers with some fibers normal-ipotrofic.
In the first center they wrote that the biopsy was normal, in the second center they wrote that there was a slight sign of aspecific myopathy but the doctor told me it was normal and that it was not a diagnostic finding for a muscle disease and that if we made a biopsy to 100 healthy persons 50 had a biopsy like mine. The same told me the responsable of biopsy testing who told me that a slight variability of fiber size is frequently found also in normal people without muscular problems.
A friend of mine who made the biopsy in another center for muscular diseases who had a biopsy identic to mine (variability of fiber size with no istochemical findings) had a paper with written that the muscle was normal.
oh the second time i made the biopsy i also made a test on Mitochondrial function on the muscle which came back normal (this center was specialized in mitochondrial myopathies)
The doctor told me in her opinion i had not a metabolic problem and to search elsewhere. I do not trust her, my symptoms are pretty the same of a myopathy.

So the only thing found a little bit unusual is this slight asimmetry of muscle fibers in absence of istochemical findings.
In my opinion i have something metabolic and genetic also because my mother has similar symptoms.. so it could not be a coincidence.
Anyway the only thing i have to do is wait and see because i went to most of all the biggest neuromuscular centers here in italy.
Now i am waiting for Lyme testing from infectolab because when all this started 8 years ago i was working in close contact with farm animals and borrelia antibodies came back borderline 3 times, and also western blot test came back borderline. But at that time i trusted doctors who told me it was not a concern. Now i know it could not be so.
Anyway there is the thing that my mother has similar symptoms which make me always think it could me a genetic metabolic situation.
My mother also went thorugh a lot of test:

EMG was normal
CPK,LDH were normal but Aldolase was elevated (but she has problem with her liver so it could be from that)
Lactate was normal at rest but raised after aerobic exercise (they told that it was not so diagnostic in sedentary-smoking people)
Biopsy: she had a marked different size of muscle fibers with a lot of ipotrofic fibers (type 2) but without a istochemical abnormal finding.
Infact they wrote that there was this ipotrofy of muscle fibers but with no clear signs of myopathy because of the normal istochemical

A total mystery...
joshi
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Re: 8 years into this from italy .. and a lot of tests

Postby muppetdog on February 8th, 2014, 2:14 am

Have you done any testing for mitochondrial dysfunction. I think that can be genetic.

Good luck.
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Re: 8 years into this from italy .. and a lot of tests

Postby joshi on March 15th, 2014, 2:01 pm

yes, if you read what i wrote you see that i have done lactate testing and 2 muscular biopsies+ mitochondrial analysis on the biopsed muscle... and came back nothing.
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Re: 8 years into this from italy .. and a lot of tests

Postby RobJ on March 16th, 2014, 8:01 am

You will never get a positive diagnosis. Let it ride.

7 emgs in 8 years is crazy.

I was told 20+ years ago, you've got something we haven't identified yet.

This may be what you have, something that hasn't been identified because it doesn't diminish your life span and there is not definitive test or multiple tests to rule out others.

Our body is tricky! Best to sit it out and wait to see what happens. Enjoy your life!
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Re: 8 years into this from italy .. and a lot of tests

Postby joshi on March 17th, 2014, 4:29 am

hi Rob yes i think i can have something like that , the point is that whatever it is is not stable but slightly gets worse, symptoms keep on adding to the ones i alredy have, so this concerns me a lot. If i had stable symptoms maybe i wouldn't be concerned anymore after 8 years but it's not like this, in the past months have come 2 new symptoms in spite of what i'm doing to try to cure me (super healty eating, juicing, supplements, exercise..)

Anyway i'm going to run the anti VGKC antibodies to look for isaac syndrome and the LYME test from infectolab came bac positive, it seems that i have an active borrelia infection, in the next days i will see a doctor to run more extensive tests about lyme.. and we will see

PS: rob which are your symptoms? are they evolved in the years? and what came back from tests?
joshi
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Re: 8 years into this from italy .. and a lot of tests

Postby RobJ on March 23rd, 2014, 7:39 am

i think my symptoms started in 1989. trip to emerg rm for chest pain..had abnormal ekg..sent into boston for addl tests..told i had myositis..started twitching sometime in early 90's..in 1994 back to emerg rm for chest pain and odd shakes in upper chest throat odd feelin. this time ekg normal but had cpk of 1100. tested for everything under the sun. twitching increased...back thumbs thigh..sometime early 2000's arches of feet constant twitching....today thousands if not tens of thousands of twitches during the day.

never diagnosed...have gash in left leg for muscle biopsy..hav had every test..been told something goin on because my cpk was 900 to 1100 and now its around 500 but no weakness.

neuro in boston told me they just dont know everything. enjoy life someday u hav weakness come back.
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Re: 8 years into this from italy .. and a lot of tests

Postby RobJ on March 23rd, 2014, 7:39 am

i think my symptoms started in 1989. trip to emerg rm for chest pain..had abnormal ekg..sent into boston for addl tests..told i had myositis..started twitching sometime in early 90's..in 1994 back to emerg rm for chest pain and odd shakes in upper chest throat odd feelin. this time ekg normal but had cpk of 1100. tested for everything under the sun. twitching increased...back thumbs thigh..sometime early 2000's arches of feet constant twitching....today thousands if not tens of thousands of twitches during the day.

never diagnosed...have gash in left leg for muscle biopsy..hav had every test..been told something goin on because my cpk was 900 to 1100 and now its around 500 but no weakness.

neuro in boston told me they just dont know everything. enjoy life someday u hav weakness come back.
RobJ
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Re: 8 years into this from italy .. and a lot of tests

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