Hi,

My first message here.
I'm 36 y.o, male. vegetarian for the last 5 years,
I first started my neurological diagnosis path 23 years ago, when i was about 13 y.o. I started complaining that my muscles start to burn when i do something continuous like using a spoon to eat a soup or holding a glass to drink water, this affects all my muscles.
CPK levels were at about 300, and muscle biopsy was taken - there was no evidence for muscular disease. Lactate and Ammonia blood tests were taken also while doing exercise and these were normal also.In the following years these symptoms continued. Couple years later on I started to feel 'waves' through my legs and through my hands. It came and it vanished after a period of time. There were also attacks of itching all over my body when exposed to heat. it vanished also. Then there was one time I went to the gym after a year I wasnt there, I exercised too intense for a first time and the next day i could barely do anything, muscles throughout the body were painful. I had rhabdomyolisis with cpk levels at 25,000. It went away after a week with fluids. A second muscle biopsy was taken and again was normal. cpt tests were normal also.
The waves continued. it appeared and disappeared. there were also times where some parts of the skin felt differently - sensitive to touch, burning but it went away after couple of days.
Then came the heat intolerance, I couldnt sleep when i felt it was too hot, I felt like my whole body is on fire. If i used the A/C things were better. 15 years ago my feet started to burn when it touched the ground, as soon as i lift them up it felt great., emg was normal. I think it came and vanished, or the pain degree changed.
There were time i felt i lost my balance, even if i sat on a chair.
Heartburn attacks for weeks, regardless of food.
The last two-three years, my palms started to get very cold when exposed to cold weather. color didnt change so it wasnt rynaud. sometimes the palms got swollen and painful, but it went away after several days. now the cold hands are almost constant.
Rheumatologic diagnosis was all OK, except for positive RNP, but ANA was negative, so they said its not that.
A year or more ago I started to feel strange when i used my mobile phone's touch screen to write messages, the screen felt different. Now it really hurts to tick the screen, the tips really hurt.
It seems like i lost the temperature and the 'real touch sense' in my palms and feet fingertips.
I'm also having bowel issues in the last months - lots of gas, in the mornings i can even go 4-5 times to the restrooms. I can see undigested food in the stool.
stool tests showed blastocystis hominis. Took flagyl antibiotics for a week, but the parasite is still there.

I had a skin punch biopsy to try and diagnose a small skin colored papules on the dorsal and dorsum. They couldnt identify what it is but one of the findings was: dermis changes including mild pre vascular inflammation changes - fibrosis.

I'm supposed to have genetic tests in 10 days for sodium channel mutation.

I'm looking for your help in trying to find the cause for this thing, what tests should i ask my doctors to conduct, what is the best center in the world to try and diagnose and treat this thing. any help is appreciated.

Wanted to add tests iv'e done:
Several EMG tests - all normal.
Two muscle biopsies - normal.
Brain MRA - normal.
Thyroid normal tests.
Autoimmune blood tests - all normal except RNP, but ANA was negative.
Fabry - negative.
Malignant hyperthermia - negative.

Hi madmax,

Sorry you find yourself here, but you have a lot of company.

Many of us are idiopathic and have no clue why we have neuropathy despite extensive work-ups. I'm currently exploring any possible genetic cause having taken an whole exome test. I'm on my own doing this, though. I have to sift through my results.

Are you here in the U.S.? The one thing I've not done is had a full-blown Lyme Disease work-up. At least one person here discovered the source of her problems doing that. I have a local Lyme Literate Doctor (LLD), but he doesn't take insurance, and it's $800 for the first appointment. That doesn't include any testing.

Janie

Thanks for your reply.
I'm from Israel. Money is not an issue right now, and I also have an insurance.
Before we had our second pregnancy we did some gene testing and they found a mutation in IKBKAP gene IVS20DS.
Another genetic thing I'm trying to explore are those papules I have on my palms and feet, which I think are Acrokeratosis veruciformis which involves ATP2A2 gene.

I think I also see petechiae on my skin.

Any idea about these?

I have started today to take some supplements: B complex, Alpha lipoic acid and probiotics.

Did another run of blood tests yesterday, RNP is again high - 2.2(prev was 1.5), ANA pattern and titer are still WIP, i really pray it will return negative as last time.

I should see another neurologist in 10 days.

Hi madmax80

The IVS20DS variant of IKBKAP is relatively common in people of Ashkenazi Jewish background and can lead to sensory neuropathy. The "Molecular Genetics" section here might help you in discussing this with your health care team OMIM Entry

- * 63722 - INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE COMPLEX-ASSOCIATED PROTEIN; IKBKAP.

Acrokeratosis verruciformis is an autosomal dominant condition associated with mutations in the ATP2A2 gene. What that means is that it has a strong family genetic history - if one of your parents (and either of their parents, etc) has it then there is a 50:50 chance that you will.

The information here might help you in this context Acrokeratosis Verruciformis of Hopf: Background, Pathophysiology, Epidemiology.

Thanks kiwi.
I am Ashkenazi Jewish. But as far as I'm aware the xymptoms of familial dysautonomia are much more severe comparing to what I feel.

As to acrokeratosis - it seems like my father and sister have the same papules on their feet dorsal, but they dont have any neurological symptoms at all.

Did you look up those genetic results?

It appears to me that you have various risks for several diseases, which are all rare. (including dysautomnia, and malabsorption of fats because of pancreatic failure, and nervous tissue problems).

It might be best to see a good genetic specialist to find out which nutrients would be best for you. For example, if you cannot absorb fats from the diet well, you may need Vit A and E supplements.

Genetics is still an infant science, but you need to find out more about yourself. Getting MTHFR DNA test may show you have methylation failures and you may need methylcobalamin and methylfolate to correct that.

Genetic errors manifest differently in different people.

Not all cells share the mutation equally.

I have a friend with a daughter who was diagnosed with Turner's syndrome. When she went to a specialist, this doctor tested cells all over the girl's body and found only about 50% of her body was missing the X chromosome.

But this illustrates that the expression of DNA mutations are variable. One cannot take them literally. This is why having a specialist is a good idea to formulate answers or treatments.
Sometimes environmental stressors (illness/infections, excessive exercise, etc) may trigger symptoms.

Thanks mrsD.
I did see a genetics specialist something like 3 years ago. He sent me to do the brain MRA which returned normal.
Who is the best genetics doctor you know or best center i can try and reach?
I should have a full genetics panel next week where they will try to search for a sodium channel mutation.

You can search just as well as I can. I have no idea what is in the area you live in. However your heritage where you are suggests to me there must be genetic specialists where you live.

Ask to see what is in the test you are getting. Will it be a full genetic screen? Or only a partial for neuropathy? I think you should get a full test like janieg got for her issues.

Some doctors only test for specific problems and do not give a full workup. Did you check out her new thread yet?

It is sometimes difficult to shift from patient to being your own advocate. With time you'll learn much more if you are less passive with the doctors and do some research on your own.
Also make sure you get your B12 tested to see if that is seriously low. No supplements for several days before the test.

But for now, try not to overdo physical exercise, and eat a varied diet, avoid too much sugar and carbs. Look up each coded mutation and see how it impacts your metabolism. I found alot in just a few minutes. The malabsorption error you have suggests what nutrients you should concentrate on.
I would avoid the lipoic acid supplement as it takes up the multivitamin transporter, and prevents other crucial nutrients from getting to your tissues.

All you can do in the end is support your tissues with non-stressful activity, good food, good rest.