Thank you for accepting me into this group.

I’m looking for some guidance from those that have been here before. I guess my main question is, should I trust my supposedly expert Doctor and be resigned to my DX or do I trust my gut and demand further testing?

Here is my story
About 2 years ago, I got very sick on a business trip overseas. I recovered just fine. However, 1 week after my illness my ankles started burning. Eventually, I started twitching like crazy with it. Eventually, after bouncing from primary doctor to a rheumatologist, I made it to a Neurologist. She did a full exam and said everything looked good. We did a EMG and NCS which came back clean. She explained my burning was likely small fiber neuropathy, but that she wasn’t ready to dx me because she had no expertise in this field. She was young and inexperienced (guessing early 30's). I also got a MRI done which came back clean as well. So I researched and found the local expert in SFN. He specializes in PN and SFN, he also has a few papers he did on IVIG treatment for SFN. I got an appointment after 6 months of waiting.
He examined me and we did another round of EMG and NCS. He Dx’d me Cramp Fasciculation Syndrome. I asked repeatedly about SFN. He said he was 95% confident I did not have this because my vibration test was perfect and I had no loss of sensation. But what about this burning pain? He said it was just nerve irritation and quite common for CFS and BFS. Honestly, my pain is 1 on a scale from 10. I have read many with SFN that can’t sleep with sheets on their feet. I do not have this problem. It’s really just annoying pain.
However, 3 weeks ago, the top of my toe went numb. Like a dead nerve… I can’t feel anything on a very thin line on the top of this toe. I don't recall hurting myself in a way that could cause nerve damage... This has me worrying again about SFN. Everything tells me I should just get a skin biopsy and find out for sure. He insisted this was not necessary and that I should relax and enjoy life.

Here are a list of my symptoms

Both legs experience symptoms.
• Burning pain:
o Pain is mostly related to ankle area. Directly at the crease between shin and foot, where folds of skin occur.
o Secondary burning pain is located up to the mid shin.
o Burning pain to a lesser degree between mid-shin and ankle, and top of foot.
o Symptoms increase substantially while in seated position.
o The bottom of my feet and toes are not in any pain at all.

• Muscle Twitches:
o I twitch easily over 50,000 times a day.
o The vast majority of twitch is located in the calf area of both legs. Twitches are mostly unseen, but a minority can be seen. Twitching never complete goes away, but does differ in intensity from day to day.
o Less common areas include, quads, glutes, abdominals, biceps, forearm, neck, eyelid, and lats (back)
o Symptoms increase substantially while in seated position.
o Symptoms explode after strenuous exercise.

• Buzzing
o My feet and calves have a buzzing sensation that is nearly constant.
o Occasionally get buzzing in other parts of the body but rare
o Could this be high frequency twitching?

• Dizziness/light headed: (this symptom has been gone/very rare for about 1 year)
o Constant light headed feeling, but varies in intensity day to day.
o Worse when moving eyes from object to object. Worse when bending at the waist. Worse when I tilt head back. Worse when open and close eyes.

• Internal Tremor: (this symptom has reduced substantially for over 1 year)
o Internal low amplitude pulsing/shaking tremor can be felt for hours at a time. This signal is amplified when leaning against something… more so with arm held in higher position. This pulsing cannot be seen.

• Joint Tremors (This symptom is progressively getting worse)
o Thumb tremor when typing.


• Numbness
o Numbness first reported 7/12/17. Located on dorsal/medial side of large toe.

• Reduction in all symptoms reduce while active/moving.

Hi dtaijo174

Welcome to NeuroTalk .

The PN forum is very active so I am sure that its regular members will be able to offer you helpful suggestions (I don't know enough about PN to say anything particularly useful).

All the best.

Hi and welcome.
I had never heard of Cramp Fasciculation Syndrome so I looked it up. I was surprised to see that it can also include the same symptoms as SFN. Perhaps that is why your doctor said you didn't have SFN. If you really want to find out a punch biopsy is the only test we have that can confirm SFN.

I hope this helps.
Caroly

I am in agreement with pinkynose.......just get the skin punch biopsy and know for sure.

If the new dr won't do it find someone that will......I saw my foot and ankle dr once, called back a few days later asking for the biopsy and bam it was done.

I was dx'd with Severe Small Fiber Neuropathy and my journey began in Sept 2013.

Peace of mind is a wonderful and powerful thing in my book.

Please keep us posted.

Debi from Georgia

those symptoms all fit in with sfn. Unfortunately calling it that, won't change treatment or find the cause. The biopsies heal well and leave small circular scars, so that isn't a big deal, but all they will do is prescribe neuronitin, lyrical, or tricyclic antidepressants or other anti seizure drugs to try to reduce the nerve symptoms, which is probably where your options are now with the diagnosis you have now. Have you already been to a rheumatologist to get worked up for autoimmune disease?

Welcome to Neurotalk. Sorry you find yourself here.

Likewise, I'd never heard of Cramp Fasciculation Syndrome, but it piqued my interest because I do have a bad problem with cramping in my feet and lower legs. Benign Fasciculation Syndrome is something I'd read about years ago, I thought that was what was affecting my left leg (since the 80s). Then things got ugly in 2013.

I can relate to a lot of your symptoms...

Burning in the legs and feet - Yes!

Buzzing - always in my feet and lower legs, sometimes upper body when flaring. I have a "full body" buzz when I wake up in the morning, but it mostly subsides once I get moving.

Ridiculous unseen twitching in my legs - I think magnesium supplements have helped this. They seemed to wane once I started taking them.

Localized altered sensation on three toes

I have other symptoms too, but those are the "highlights."

Is the numbness in your toe you report really numbness or just altered sensation? I can feel a pin prick on my toes, so they're not numb, but what I feel constantly is a sensation of something like my socks being bunched up, or maybe my toes being wrapped in something. When I flare, I get that wrapping sensation all the way up my lower legs.

I'm going back to a neuro for the first time in three years in a couple of weeks just to get feedback from another one. I've not had the punch biopsy done because three years ago my other neuro said "I know you have SFN, and the punch biopsy won't tell us why." At that point I'd had a gazillion tests done, and didn't argue.

Hi dtaijo174:

I also have many of the same symptoms. Three years ago, mine came on pretty quickly starting with twitching and cramping - then progressing to pain in the feet, etc. After a 6 month acute phase where things got progressively worse, they stopped progressing and have improved to some extent.

One of the things I've posted on before is the fact that many people with BFS/CFS also present with small fiber loss when tested. Same thing with fibromyalgia patients.

Its unclear exactly how or why all these conditions seem to be linked together, and unfortunately none of them really have very good treatments.

Beyond whatever treatments your doctors recommend, I always recommend:

-Improve your diet
-Take supplements that have shown some ability to help with neropathic issues (see the separate forum on supplements for PN)
-Exercise regularly, to the extent you can tolerate.
-Relax. (Stress can be a big factor in these diseases, so use whatever relaxation techniques will work for you - meditation, controlled breathing, white noise, etc.)

I hope you can find some relief soon.