Isaacs Syndrome

[Jlisa]

Seeing a neurologist for full body muscle spasms - increasingly worse in legs - and seeing a Rheumatologist for UCTD / lupus. Started to walk funny - stiff. MRI negative. Quirt test borderline okay. EMG next week. Probably shouldn't have been trying to self diagnose but I have all of the symptoms of Isaacs Syndrome except slurred speech. Sometimes I slurr my speech or talk backwards but that is only when I am tired. How insane will my doctors think I am if I ask them to test me for this rare disease? I was thinking that maybe my immune system is at fault. Please help. I am getting scared by the progression of the symptoms.  

[ShakerJ]

Just keep trying to find the right neurologist that will treat you correctly. It's imperative that you get an EMG to be diagnosed correctly.

[ANGELAMC76]

Hi I have Issacs disease anyone out there want to discuss where there up to with disease?

[ShakerJ]

Hello my name is Steven I'm 64 years old. 20 years ago in 1998 I was diagnosed with stage-4 esophageal cancer. I was allergic to the chemo so they remove the cancerous tumor in my esophagus through surgery and by miracle I survived however since then I have been experiencing so many different symptoms that I've and I've often wondered what's going on with my body. over the past 20 years I've been diagnosed with several different things ranging from MS to polymyositis one doctor even had the nerve to say I just had angry muscles.  My symptoms range from severe cramps in all extremities in my body and all my limbs even my muscles in my torso. I've had facial cramps and basically cramps from head to toe. I've felt like I've had restless leg syndrome in my entire body I'm even have sensations of someone putting out a burning cigarette on my skin in any given place on my body. 6 weeks ago my kidneys shut down and I spent two weeks in the hospital. I was within one hour of losing my life and now I'm recovering from that. I'm always tired but never seem to get any REM sleep. and for years doctors did not believe the symptoms that I was telling them. I've had numerous emgs MRIs, and almost every test in the book. I've tried oxcarbazepine, car mazepin, Gabapentin, Lyrica, clonazepam and a few others that I can't remember. Oh, and I have terrible short-term memory. The only relief that I've had in the past 20 years is by taking opioids like Norco, Lortab, Percocet. Right now for the past month I've been taking Norco 10 - 325. I feel the best and the most normal since I've been taking the opioids that I've felt in years. Good luck on your journey. With the opioid crisis as it is it's hard to find a doctor to treat you.

[anatans]

Will my son who is 18yrs he has Isaacs syndromes will is progresses as he gets older

[anatans]

my son is 18 years old with Isaacs  it begin around the age of 12 sometimes I think his memory is not as well and that

what concern me  I believe he has it very mild can it or will it worse as he gets older.

[ipp6]

i just saw your post. i recently got dx with lupus and isaac
how are u doing?

[ANGELAMC76]

IF YOU GO ON FACEBOOK ISSACS DISEASE I WOULD LOVE TO CHAT TO U.  ANGELA

[brandycolwell]

did you ever find out what this is?

[Jlisa]

MRI and EMG came back pretty normal. A few oddities: EMG showed diffuse ulnar slowing and MRI showed one lesion. I was told that they are undiagnostic and not to worry about it.  With Isaacs syndrome and other neuromuscular diseases ruled out I am back to wondering if the hyperparathyroidism secondary to low Vit. D is the culprit. My doctor has had me on 1200 iu of Vitamin D for 6 months now but the symptoms seems to be getting worse instead of better. Recently I increased my Vit. D intake to 1600 iu a day to see if that helps. Should I be on an even higher dosage of Vit. D or am I headed down the wrong track? I am a starting to wonder if I should just let this go. Maybe I am thinking about it too much and making the symptoms worse on my own. Could it be in my head?

[Jen121]

Hi, I have been diagnosed with neuromyotonia for 10 years now, and having read your comments, wondered if you might be able to answer a question of mine.  

I am moderately affected in all areas, except my face which is fairly bad - around my eyes and mouth.  I take phenytoin and am thinking of using IVIG - a suggestion of my neurologist.

I have been having some problems with my throat, no difficulty swallowing, just the feeling of movement at the back.  It makes me feel anxious, and it seems to be tightening and releasing in a pulse.   It is worse after eating - how concerned should I be about this?

Jen

[Jlisa]

Thank you for your insight. May I ask you one more question? How might the UCTD be involved with leg muscle weakness and continuous full body muscle spasms, most significantly the legs? The muscles and nerves are not considered organs I'd imagine. Might this be temporary or could it worsen? I've been experiencing these symptoms for many months now. My physician is worried about atrophy and wants to rule out neuromuscular disease. Me, too.  

[Godofredo MD]

Hi.

The progression of undifferentiated connective tissue disease is quite variable. In some cases, remission occurs permanently, in others, it progresses to other connective tissue diseases such as systemic lupus erythematosus. The rest presents with a stable chronic disease, manifesting with symptoms of multiorgan involvement.

Since you do not want to take corticosteroids, the only other option left may be immunosuppressive agents such as methotrexate and azathioprine. You should talk to your physician to determine whether this class of drugs will be of benefit to you.

Hope this helps.

[Jlisa]

Thank you. I am 40. I will go ahead with the EMG as planned. If the spasms and weakness are a result of UCTD can I expect the symptoms to worsen and further affect mobility - my biggest fear thus far -  or are there treatments for this? I am already on Plaquinel (sp?) and I don't want to go on steroids.

[ANGELAMC76]

Hi can I ask how are you doing now? I am 39 and have had problems for years, but 6 years ago I started feeling worse and was diagnosed with Issacs.  I have tried IVIG and 6-7 different pills all without success and it seems to be getting worse still. Angela.

[Godofredo MD]

Hi.

How old are you now? How long were you diagnosed with undifferentiated connective tissue disease?

Isaacs' syndrome is, indeed, a rare disorder. For those in the forum who are not familiar with this disease, Isaacs' syndrome is neuromuscular disorder, and is also called Isaacs-Mertens syndrome, neuromyotonia, or continuous muscle fiber activity syndrome. The signs and symptoms of this disorder include progressive muscle stiffness, mykokymia or the persistent undulating skin movement that lies above affected muscles, muscle twitching or cramps, slow movement, slurred speech, increased sweating, and difficulty in chewing or swallowing. At present, there is no specific treatment for this disorder and is generally managed with anti-seizure and immunosuppressive drugs.

Going back to your post, it would be more likely for your condition to be associated with the undifferentiated connective tissue disease that Isaacs' syndrome, as UCTD can also cause neurological symptoms.

You should go ahead with the EMG as this is one procedure that would help rule out the presence of Isaacs' syndrome.

Hope this helps.