Is it Isaac's Syndrome?

I’m a 32 year old male who began noticing troubles with his legs about 15 years ago. It started off with a quick give after starting a full sprint, and has now become a serious weakness in my legs to the point I am using a walking stick just to help me get around.

It started when I asked my Primary about a possible knee problem. He sent me to a joint specialist, who shot some x-rays and informed me the joints looked fine. I have been to several Doctor’s and have had various things thrown out at me ( I.e. Muscular Dystrophy, Spinal Muscular Atrophy). As well as various tests conducted: MRI’s of head and spine,  3 EMG’S, Nerve Biopsy, Muscle Biopsy, and stress tests.  Oh, and a mountain of blood work.

My current Neurologist tried everything she could think of, and after coming up empty handed, sent me to Denver. After conducting his EMG and a muscle biopsy, the Neurologist there too came up with nothing.

After a visit to the Mayo Clinic, it seems they also had a hard time placing their collective finger on it, but came to the conclusion it must be Isaac’s Syndrome. So I am currently taking an Anti-Convulsant, which seems to do me little good, save for helping me sleep more soundly.

Some of the symptoms may agree, but some of it seems very amiss.

I have severe weakness in my thighs/hips, tremors (mainly in my hands and head), little to no pain, and the pain I DO have seems to be concentrated in my joints, hyperhydrosis, a feeling in my throat that every once in a while gags me, and severe anxiety.

As of recent, I have noticed that if I stop and focus on my body, I can feel how tense it is. I have to mentally force my self to relax. Of course, minutes later my body is tense again and I ultimately gain nothing. Strangely, I can’t help but wonder if I am somehow making this all worse in my head. My body is tense, but not in pain, I’m not spasming, just twitching.

Undiagnosed things I have heard is Lyme disease, or mercury poisoning could show those same type of symptoms. I, and apparently the majority of the medical field are at a complete loss.

Any help would be appreciated.

[RJ233]

I would not be much help in your diagnosis, but I do know a hospital that I have faith would be able to find the problem. I have found that xrays, even the MRI does not always show everything. I see you have been to the Mayo Clinic, so the hospital I think that could help you is not that far away. It is in Richmond, Virginia. Virginia Commonwealth University Hospital. It is a teaching hospital and is where serious injuries or health problems go from the other hospitals. They are experts and will find the problem as they will consult with other experts there, if it takes teamwork to help you. They are located right off the 95 exit on Broad Street in Richmond. Call their information number and they will help set you up with the type of dr that you need. My drs are either located there or trained by them and I started seeing them there and followed them. It is well worth the trip. I wish you the best, and let me know how things go for you.

[Todd13]

Thanks RJ. I actually went to Mayo in AZ. I have family there that let me stay during the ordeal, which was a huge assist finacially. I will definately keep that in mind though. Seems no one else can figure it out, what could it hurt?

[rick12]

Todd
I was diagnosed with Isaacs Syndrome 2 years and 3 months ago.
So I have have been through a similar ordeal to you.
The gaging, hyperhydrosis are common  to many of us with Isaacs.
Most of your symptoms are consistant with Isaacs and what I have suffered especially the legs. I am currently having Botox Injections for this with amazing results.
There are many treatment you can try including the anticonvulsants you are taking.
The front line used in Isaacs is Tegretol aka Carbamazapine.
There are a few forums you can join where many of us regularly post.
I hope you can join us. Try Isaacs World Chat Group just do a Google to find us.
Finally dont give up. You can get on top of this and have return to a good life.
Kind Regards
Rick
Sydney Australia

[RJ233]

I agree Todd. It never hurts to check out every opportunity. If you know a well known, good professional dr, you can ask them for a referral, though you probably already have.
That was how I found my answer, and it was at the hospital that I spoke of above. I also got a referral from another dr that used to work at that hospital and taught there for years, for my son on a problem that he could get no answers to. He was referred to a dr from the same hospital and found and solveded a problem he had for more than 10 yrs. That is why I say I have such faith in those drs. at that hospital.

You may be able to call the hospital and ask if they could give you any help on locating one of their drs in that field that may be in your area, or contact one of their drs's office located in the hospital to see if they could help in referring one of their drs close to you, if they know of any.

[Todd13]

Is it fairly common to be just this side of incapacitated? It seems the more I read, the more people don't seem to have a problem with walking or getting around so much, and yet I can barely get through a Walmart shopping trip, and that's with a shopping cart to assist me.

[Dr. A. Srivastava]

Thank you for your question. There can be several reasons like any neurological, hormonal disorder for such symptoms, however difficult to say anything precisely without being able to examine you. However, Issac syndrome is a neuromuscular disorder and there is pathology associated with the peripheral nerves. Hence nerves continuously fire without stimulus and muscles reach on hyper excitability stage. As a result of that, symptoms can be muscle stiffness, continuous twitching and sometimes numbness. However, there is no treatment of this syndrome and prognosis depends upon extent of the disorder. For symptomatic treatment anti-convulsants may be suggested. A neurologist consultation is essential to know the further outcome. Hope this helps.

[Todd13]

another thing someone can help me with is;

When I am not distracted, I can actually will my muscles to relax. I can recognize being tense, and then force my brain to relax. Is that typical?

[rick12]

Todd
Without beating around the bush - I think there is enough evidence to indicate Isaacs.
You need to find a Doctor that has hands on knowledge of this.
If you go to those forums I have mentioned - there is a Doctor that actually has Isaacs /CFS. He  posts now and again. In the meantime the Isaacs World Chat has a list of Docs or Centres that have knowledge of Isaacs.
As said by someone else - there is no cure for Isaacs just as there is no cure for diabetes but you can manage the symptoms for Isaacs - it will just take time and the right combination of  medications. You can have a reasonable quality of life.
Same as you, I thought it would never happen but I got there.  Have faith in yourself and be proactive.

Kind Regards
Rick
Sydney Australia

[Todd13]

Thanks again, Rick.

I believe I joined the chat group you speak of. Yeah some of it does sound like its dead on, but some of the symptoms sound very off. As it stands, I am doing what my Neurologist tells me to, but it seems she has little advice on how to approach it. My anti-convulsnats aren't doing anything. I she is gonna change up the prescription, and if that doesn't work she wants to do the whole plasma exchnage routine. I might try to talk her into the botox thing.

It sounds promising at least.

[rick12]

Todd
Glad you joined us.
I had plasma exchange 7 times its not that bad.
Although it did not cure me I am sure it broke Isaacs back and allowed all the other medications to work..
Regards
Rick
Sydney Australia

[logicnreason]

Interesting, a disease process with no real diagnostic criteria, save for EMG with a positive diagnosis if there are ATYPICAL findings.

What about dystonia? No real way to diagnose that either, but, similar symptoms.

I realize medicine is a science and is just being practiced per say

( Medical professionals TREAT according to presenting signs, symptoms and diagnostic tests that have revealed similar results in others, and then reported in medical literature with different names and titles. )

A Medical license is obtained after attending academic studies of normal and pathological states in the human body  ( A ) science.

All of which is BASED on prior humans with similar symptoms, with positive or failed response to whatever arsenal of drugs or other regimes were beneficial.

Scary, isn't it? I could go on and on..............but whats the point?