Could you help clarify my problems?

I have multi-parted questions to ask of you.  Please bear with me as I am trying to get a better understanding of everything.  I have myasthenia gravis based on the achr assay test and a sfemg. I have symptoms that do not correlate with MG such as numbness, rashes, low grade fever, absent tear film mensicus in both eyes, tear break up time of 6 sec vs 10-12 as normal, no flow in one sublingual salivary gland, reduced flow in all the others.  I have one doctor who says I have possible mitochondrial disorder and told me to take q10 coenzyme, my mg doctor said not to take it because it will boost my immune system which is bad for mg.  I have another doctor who says I might have sjogrens syndrome vs one that says I do not have it that the medicines are causing the dryness and rashes.  Then we have the oral pathologist who says the medicines actually cause me to salivate more. My meds are mestinon and klonipin (klonopin).  Here are my positive tests.  I have a ana at 1:80 speckled which remained at 1:40 speckled for the past 2 years until the rashes, dryness, etc. I have borderline asialo GM1 IGM antibodies, a C4 which is 12.3 with the original  test showing 12.9.  The C3 was low on the first test but then normal on the second test.  A rheumatologist classed the C4 as a genetic deficiency. I have not had a muscle biopsy.  All the sjogrens antibodies were negative, I think they have done all tests but the double strand DNA.   The ring of doctors are 2 neurologists, 2 rhuematologists, and a oral pathologist.  I have numb toe tips, decreased vibration in left ankle over right, lower leg and feet decreased sensation, buttocks, lower abdomen, inner thigh numbness, intermittant numbness in outer left 2 fingers and decreased sensation on right hand.  I have cold feet and fingers.  I get migraines and some variant of burning headaches that come at the time of hormonal changes durning the month.  I have what they called vasular flare  and uticarial rashes.  They do not last very long.  I have developed a permanent faint flush on my neck and by afternoon my chin has a deeper flush on it as well as parts of my face.  I do not have high blood pressure. I am hyporeflexive prior to all this happening I had normal reflexes. My family history includes congestive heart failure and RA for father, MS, RA and Lupus for a brother, bells palsy, arthritis and intention tremor for mother, high BP for mother, father and 2 sisters.

Here are my questions:

How can one be sure that the C4 is genetic deficiency and when that is determined for instance would those two tests suffice to qualify that, what is the likelyhood of me havning sjogrens?  Would that indicate a higher chance of getting lupus if so do you know the percentage?

I was told that in order to have sjogrens, the ana would have to be 1:132, is that correct?

My biggest concern is the numbness spreading as it has and ending up like my toe tips which is a deeper numb sensation as well as other problems occuring that may be irreversible during the diagnosis process.  This has been going on for over two years, and I know medicine is not an exact art, but being in the crossfire of doctors and not knowing what is wrong gets the better of patients at time.  Please help me figure this out and what direction I need to go in.

Thank you for reading this long post.

[CCF Neuro[P] MD, RPS]

Dear Confused:

Sorry that your having all the problems your describing.  I am not sure I can help you much.  First, CoQ 10 is a supplement, sold over the counter in health food stores.  It's function is acting between complex I and III in the respiratory chain of mitochondria.  We give it to help increase mitochondrial function, but the data in people without mitochondrial disease is not robust and very little is known with scientific evidence in well controlled studies.  If you had a mitochondrial disease then you should have other abnormalities such as increased ketoglutarate in your urine, lactic acidosis, abnormal amino acid ratios in your serum, etc.  You are not giving me data to suggest that you have a mitochondrial disease.  To define if you have a C4 genetic deficiency you would need genetic testing.  I am not sure where this is done, but likely it is a research protocol somewhere.  The rheumatologist would know better than I.  How do you know that you have no flow in your gland?  A biopsy of the gland would help determine if you have Sjogren's.  I would think that you would not have Sjogren's but some of you symptoms might be due to the general autoimmune disorder you have (MG) and the medication your on to treat the disease.  But, Sjogren's is associated with MG as both are autoimmune diseases.  But, I would assume the former. The anticholinesterase medication would increase the acetylcholine present in the neuromuscular synapse.  Sounds counter to what Sjogren's but if your medication is too low or your having flucuations of the disease then the medication may not be optimally helping you. This may also be part of the reason for your rashes.

There is no one who could predict percentages of you also having lupus.  Your symptoms do not have the flavor of lupus, especially in face of having MG.  Again, more likely due to the generalized autoimmune disease you have.  What did the EMG nerve conduction tests show?  I am not sure what the sensory neuropathic-like symptoms your having are from. I would think that your autoimmune disease may be having a part to play.  We do see some patients who have bad disease have sensory findings.  

Sorry, I wish I could help you more.  I would talk to your neurologist and rheumatologist and see if they can sort things out.  It may take fine tuning your medications or adding others to suppress your disease.

Sincerely,

CCF Neuro MD

[mabel]

Dear Dr.

Thank you for your informative answer.  For you answer re: the urine tests they have done urine tests and they have all been normal.  The questions with the saliva gland is the dentist and the oral pathologist discovered that there was no flow from the one sublingual and the other sublingual that had good flow in Aug is now reduced flow as well as the parotid.  The nerve conduction tests were normal except for a lower right limb showing mild demyelation.  The sfegm was positive for abnormal jitter and blockages in the arm, orbiculus oculia and the frontal forehead.  If you do not mind me asking what is generalized autoimmune disease?

Thank you for you help.

[CCF Neuro[P] MD, RPS]

Dear Confused:

A general autoimmune disease is a term that no one claims as a definitive entity.  When a patient has an autoimmune disease, such as you do with MG, there are certain patients that have other symptoms that we have difficulty giving reason for.  When the immune system is active, there can be some side effects from the disease that seems to cross over into other symptoms not usually described for that particular disease.  An example would be antibody complexes affecting the renal glomeruli and inducing some kidney compromise.  

CCF Neuro MD

[Mohamed eletriby]

my boy has 6 yes ago and not walk well till now
the case
this boy labour at 37 weeks and for mother 41 years ago
he developed normal till 2 year
after 2 year the skull start to increase size and need operation to release this pressur CSF cerbrospinal fluid
after 6 month the chanel closed and infected
stay in ICQ for 1 month then reoperate
massage and negative movement stillnow with minmium progress
can catch the pen but not able to write
not able to stand alone
he craw correct
speek correct
and I>Q normal
help me to walk
thank

[Mohamed eletriby]

my boy has 6 yes ago and not walk well till now
the case
this boy labour at 37 weeks and for mother 41 years ago
he developed normal till 2 year
after 2 year the skull start to increase size and need operation to release this pressur CSF cerbrospinal fluid
after 6 month the chanel closed and infected
stay in ICQ for 1 month then reoperate
massage and negative movement stillnow with minmium progress
can catch the pen but not able to write
not able to stand alone
he craw correct
speek correct
and I>Q normal
help me to walk
thank
***@****