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Experiencing neurological symptoms. Suffer weak inferior rectus muscle and epiglottis dysfunction. Suggestions?

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Good evening! I am a 52 y.o. w/f who has been experiencing approximately 10 years of neurological symptoms. They include diplopia secondary to a weak inferior rectus muscle; bilat.optic nerve atrophy; failure of eyelids to close completely when sleeping; weakness of right side of mouth; hx of trigeminal neuralgia; oralpharyngeallaryngealesophageal dysphagia; epiglottis dysfunction; non-approximating vocal cords with decreased range of speech and breathy quality or loss of voice at end of speaking long sentence/singing; distal weakness in arms and legs; peroneal neuropathy; depression; memory/cognitive loss; urinary and occasional fecal incontinence; chronic constipation; orthostatic hypotension; SVT; syncopal episodes presumed to be due to the last two diagnoses, etc. All symptoms worsen as the day progresses, with fatigue, or being in hot environments. All symptoms confirmed via diagnostic tests except incontinence. Weakness was present on initial EMG but decreased on second. MRI of brain and spine is essentially normal as are antibody tests for MG. I also have non-specific signs and symptoms such as incoordination, balance problems, tripping and falling at times, hyperactive reflexes, etc. I have been diagnosed at various times as having MS, IIDD, chronic fatigue syndrome, fibromyalgia, somatic symptoms due to depression, somatic symptoms due to being a childless middle-aged female, "I don't know", "it's nothing to worry about"; etc. Since the symptoms have gradually progressed, I am concerned about the etiology not only for my own information but also to be able to explain it to family, friends, and other health care providers that I need to see periodically. Do you have any useful suggestions regarding potential diagnosis? Thanks!
Posted Sun, 18 Aug 2013 in Brain and Spine
Answered by Dr. Preeti Parakh 4 hours later

I understand you are distressed by your symptoms and frustrated by your inability to understand what is wrong.

Having gone through your history, I do not feel that you have multiple sclerosis, although some of symptoms may initially have suggested that. After ten years of multiple sclerosis, it is reasonable to expect to see at least some demyelinated patches on the MRI scan of brain, which fortunately was normal in your case. It appears that you have been seen by many doctors and administered many tests, but no one has been able to point towards a specific etiology. Many of your symptoms could have been explained by thyroid disease but I presume that you are being treated for it and had these symptoms in spite of a euthyroid state.

I do not know if you are aware of the term "medically unexplained physical symptoms". These refer to symptoms for which the treating physician, other healthcare providers and researchers have not been able to find a medical cause. It does not necessarily imply that a physical cause does not exist, but means that the cause for the given symptoms is uncertain, unknown or disputed. Often these symptoms are labelled as chronic fatigue syndrome, fibromyalgia or somatoform disorder by different physicians, as probably happened in your case.

While there are many theories to explain these symptoms, none has been able to definitively explain these symptoms and controversies abound. However, one thing has been found to be common in most patients and that is a history of repeated psychological trauma, especially in young age. It is believed that stress affects the functioning of neurons and also alters hormone levels, leading to a multitude of symptoms. The treatment therefore includes reducing the stress in life as well as specific treatments for individual symptoms. Cognitive behavior therapy and relaxation therapy have been shown to be of benefit.

In your case, just attributing all this to your being "a childless middle aged female" is not fair. Many factors must have played a role and you yourself can be the best judge of that. But I do feel that you have borne your symptoms with courage and must be commended for that. Not knowing what is wrong with you and having to worry about it constantly must be harrowing.

I do not know if I have been able to help you, but I have tried to the best of my ability.

Best wishes.

Dr Preeti Parakh
MD Psychiatry

Above answer was peer-reviewed by
Follow-up: Experiencing neurological symptoms. Suffer weak inferior rectus muscle and epiglottis dysfunction. Suggestions? 15 hours later
Thanks for your response. Fortunately, I do not have any history of any psychological trauma at a early age. The only thing in my life that could be considered a psychological trauma was having to quit a career I dearly loved because of these symptoms. In fact, the depression symptoms did not even become apparent until several years after the somatic symptoms. I have taken multiple antidepressants with multiple adjunctive therapy, been in therapy for years, and practice relaxation techniques and yoga regularly. The only response I have seen from any of this is some alleviation of the depression.

I am not aware of the term "medically unexplained physical symptoms" but will definitely look into it. However, it is difficult for me to comprehend how "medically unexplained physical symptoms" could have abnormal diagnostic test results. For example, if "medically unexplained physical symptoms" were causing my dysphagia, then I would think my swallow study would be normal which mine is clearly not; my OCT tests would not reveal optic/retinal nerve swelling when I had symptoms consistent with optic neuritis with resulting atrophy and dimness of colors after the acute symptoms resolved; I would not have chronic dry eyes with a staining pattern showing slits along the bottom of the corneas after I complained my eyelids did not appear to be full closed when I practiced relaxation techniques; or my ambulatory cardiac monitoring reveal SVT (that persisted for hours at times) the correlated with the exact times I was complaining of palpitations. However, that might just be ignorance on my part.

Could you please provide me with more information on diagnosis of "medically unexplained physical symptoms"?

And, could you please provide me with any other differential diagnoses that might be worth exploring?

Thanks and have a great evening!

Answered by Dr. Preeti Parakh 3 hours later

Thanks for writing back!

You have raised a very rational and logical point. In fact, many patients with "medically unexplained symptoms" have abnormal tests. However, the abnormalities found often are not sufficient to explain the entire gamut of symptoms one is having. For example, no one can deny that you had optic neuritis, and on the basis of that, you were suspected of having multiple sclerosis. However, this was ruled out by a normal MRI scan of brain. There are other causes of optic neuritis like infections such as toxoplasmosis and viral infections which must have been ruled out by your doctors. Had it been toxoplasmosis, it could have explained some of your symptoms but not all. Similarly, one cannot deny that you have hypothyroidism and mitral regurgitation, and these can explain some of your symptoms but not all.

It is possible that more than one disease processes are at work, for example both toxoplasmosis and hypothyroidism. However, it would need a close and in depth study of your medical records to be able to say that.

One differential diagnosis that is definitely worth exploring is that of connective tissue disorders, like involves multiple systems of the body like heart, brain, nerves, skin, muscles etc and to my mind, it is one diagnosis that can explain most of your symptoms. But I suppose your doctor must have assessed you for it and ruled it out.

It is possible that a bacterial or viral cause will be found in the future for symptoms that are "medically unexplained" today. But no one can deny that the symptoms are real and cause genuine distress to the patient. It is lack of knowledge on our part, that we are unable to explain them.

Hope to have been of help.

Best wishes.

Dr Preeti Parakh
MD Psychiatry

Above answer was peer-reviewed by
Follow-up: Experiencing neurological symptoms. Suffer weak inferior rectus muscle and epiglottis dysfunction. Suggestions? 20 hours later
Thanks for the additional information. With the exception of the information provided by the Army for returning Gulf War Vets, all the articles I could find regarding MUPS involved pain symptoms (e.g. headache, joint pain, myalgia, and abdominal pain) which I do not have. The one from the Army does include fatigue and memory loss but none of the other neurological type symptoms that I am experiencing. Or, the article focuses specifically on somatic syndromes (IBS, NUD, FM, CFS) which I do not XXXXXXX the somewhat non-specific but accepted diagnostic criteria that has been established for these conditions. Furthermore, again with the except of the Army info, almost all of the articles state that MUPS is just another name for some type of a somatization disorder. Could you please provide me with references for MUPS that is more consistent with what I "hear" you describing and symptoms other than those that are painful or GI in nature? Thanks so much!
Answered by Dr. Preeti Parakh 1 hour later

Thanks for writing back.

Some of your symptoms like dysphagia, dysphonia, peroneal neuropathy, weakness, chronic constipation etc have been described in literature as medically unexplained in some cases. Perhaps that is the reason why your doctors told you that you were suffering from somatic symptoms, although I feel some of these could have been due to hypothyroidism.

It is not that medically unexplained symptoms are only related to pain or gastrointestinal symptoms. These are equally common in neurological setting too. Perkin (J Neurol Neurosurg Psychiatry 1989;52:447–8) in his review of 7836 consecutive new neurological patients reported that 26% of patients received no medical diagnosis. A paper by XXXXXXX et al (J Neurol Neurosurg Psychiatry 2000;68:207–210) reported that up to one third of new referrals to general neurology clinics have symptoms that are poorly explained by identifiable organic disease. That is not to say that organic disease is not present, but the pathology that is present does not fully explain every thing. XXXXXXX et al (J R Coll Physicians Lond 1996;30:18–20.)reported rates of 53%, 42%, and 32% in gastroenterology, neurology, and cardiology, respectively for the percentage of patients whose symptoms remained medically unexplained after assessment.

Some of your symptoms like optic neuritis must have received proper diagnostic labels which must have been explained to you by your doctor when they occurred. But it is possible that later they were not able to do so and thought that you were having functional somatic symptoms as they could not find a single reason to account for all your symptoms. Please talk to your doctor in detail and ask him why he/she feels that you are suffering from chronic fatigue syndrome or somatic symptoms due to being a childless middle-aged female. Ask them if they have ruled out all possible differential diagnoses like connective tissue disorders as we discussed earlier.

Best wishes.

Dr Preeti Parakh
MD Psychiatry
Above answer was peer-reviewed by
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