Symptoms for 7 months, still no answers...

[sunnygal]

I am 25 (f).  I have a hx of bulimia (10 years), though I am receovered now for almost 2.  In September of 2000, I began to have a constant feeling of a lump in my throat.  Many tests done, EGD showing diffuse esophageal spasms, manometry normal, low in LES.  I have had difficulty swallowing for about 3 months.  In December of 2001 I had a bad bout of bronchitis.  I started having tightness in my chest and difficulty breathing.  PFT showed elevated TLC (110%), FRC PL (150%), and RV (145%).  The back of my neck cracks and hurts constantly.  I have had body wide muscle twitching since January 2002.  I had an EMG/NCV done by a physiatrist on my right arm and related paraspinal in March of 2002 which was normal.  I had another EMG/NCV done on my right leg and lumbosacral paraspinal in July of 2002 which was normal except the right sural nerve conduction was limited by cool limb, which could not be completely corrected by hot packs. My left knee and leg has been stiff since June 29, 2002, and I have been unable to exercise due to that fact.  My left arm is also very stiff.  I saw a local neuro once in March and once in June, both times he said my exam was normal.  However, not once did the neuro look at my tongue to see the twitching.  When I speak for long periods, sometimes only short periods, my throat tightens up and hurts.  I also have a tingling feeling in the tip of my tongue (from twitches?), throat twitches and lip twitches.

I am concerned that the EMG/NCV did not test enough areas to pick up ALS or MND.  Could you offer any suggestions and/or comments?  Thanks.

[blancaloco]

A related discussion, noise in neck was started.

[saragt]

Hey everyone. I'm new here but just wanted to empathize. I don't have the same symptoms, but the ones I have been having, nobody can seem to figure out, and noone is that concerned about. I hear a gurgling/fluid-rushing sound in the back of my head, but because I'm 22 my GP isn't too concerned. I did see a neurologist who ordered an MRI, MRA, and LP, as well as a bunch of blood tests, all of which were normal. He then put me on prednisone for two weeks, and he has me on topamax to treat my headaches (which I think are just caused by anxiety over the sound I hear) and tells me that the sound must just be normal for me and to ignore it. How frustrating is THAT?? It sounds like when you are sucking the last bit of liquid out of a glass with a straw, how can that be normal? grrrr. I am seeing an ENT next week for lack of any idea what else to do. I know I have fluid in my eustachian tubes, but I don't see how that could possibly make this noise. I only hear it when I lie down for awhile, and when I walk I hear a crackling sound. Anyway sorry for the novel, I just meant to say I know how frustrating it is to know SOMETHING is wrong, and have everyone tell you they can't figure it out and to just try to ignore it. Right.

-Sara

[CCF-Neuro-M.D.-JT]

ALS and other forms of MND are typically characterized by progressive weakness and wasting of the muscles. With time, these patients develop a special kind of twitching called fasciculations due to damage of the muscle nerve cells. The swallowing problems are usually a result of wasting/weakness of the muscles in the pharynx and larynx.  And eventually they lose control of their airway due to profound weakness in those areas.

In contrast, you have increased or too much motor tone of the esophagus leading to spasms and sphincter dysfunction (which may be a result of induced vomiting). The twitching and stiffness appears to be your predominant symptoms rather than the weakness/atrophy of muscles. With the widespread twitching, I would in most cases expect something abnormal on the exam or EMG (even if limited) if they were true fasciculations that were indicative of motor neuron disease. Finally, although I am certainly not a pulmonologist, the PFTs do not look like that of an ALS patient. Keep in mind I have not personally reviewed your case or examined you, but from your description, it doesn't sound like a typical case of MND or ALS. Consider a GI specialist to help you with the esophageal spasms which may be causing the throat symptoms. ANd follow up with your neurologist as needed. Best of luck.

[AshleysMommey]

It was the same for her.  They were just treating symptoms and she had a mountian of pills and diagnosis.  She was only 10 and diagnosed with fibromyalgia, chronic fatigue, chronic sinusitis, arthritis, occipital headaches, ADD and panic disorder, idiopathic radicularneuropathy, irratible bowel syndrome and spastic bladder and the list was growing.  I asked how could a previously healthy 10 year old have so many diagnosis?  I asked how come it all started after the tick bite and rash?  But two major hospitals and many, many doctors would not diagnose because of her negative test results.  So they called in the social worker to find out what horrible things were going on at home that must be causing all of this.  The social worker couldn't find anything.  I begged for antibiotics and they wouldn't give her any because it was too "risky" (what about the mountian of pills for all her symptoms I asked?).  

I finally got a recommendation from a lyme support group to a doctor that treats lyme based on symptoms.  There aren't many of these kinds of doctors around - ours was a five hour drive but worth it.  She was only treated with oral abx (high doses for a long time) but her symptoms did slowly disappear.  She had a little friend that was going through the same thing and he got completely well also.  They are both back to being normal kids.  

The best thing you can do is find a local lyme support group for a recommendation to a doctor.  E-mail me and I can try to help you get in touch with one.  ***@****

[Abbey]

How did your daughter finally get diagnosed for lyme's disease? Or, did they simply treat it as such? I have so many of t he same symptoms described above and have for months now. It seems that all the doctors I've been to are treating the symptoms and not the cause. It' so frustrating.

[mama2boysjj]

I have no suggestions on your symptoms but just wanted to share that you are not alone in your agony.  I have had a very similar problem since october 2001 and still have not got a diagnosis. I am 29 and it all started after the birth of my child.  My problem also started with a "lump" in my throat and progressed to esophageal spasms.  Many testing done by GI and no answers.  I then developed severe pain in my neck with cracking and grinding.  I have ringing in my ears and sensivity to sound, along with pins and needles feeling in my hands and feet.  Joint pain mainly in the small joints of hands and feet and have  occasional twitching in my face and right leg.  I have been to a neurologist and now am seeing a rheumatologist.  I hope you find some resolve and relief for you symptoms and wish you well.

[AshleysMommey]

My suggestion to both of you is to be tested for lyme disease (especially if you live in a lyme endemic area).  The tests can be negative even with having lyme (my daughters was) so it can be hard to diagnose.  My daughters symptoms were very similar to what you describe and after going through tons of tests (all negative) and stumping the doctors she was treated for lyme and is fine now.  E=mail me if you need more info.