Dear Dr. Kantor
I am currently being investigated, and have been for now 4 years, with some sort of somewhat progressive
I am actually, really weary of the whole thing, but I must press on.
Having said that, I have a seemingly baffling array of symptoms. My family practitioner has suggested she
has had concern she may have missed something, such as an MS or ALS or similar. I said it is only human
to do such a thing if that is indeed the case.
I started with numb toes, emg's show virtually no nerve damage. I have had spontaneous muscle eruption in one
arm, burning sensation and pain in calves, fasiculation type pain in calves, pain progressing to arms, use of arms
as an example causes seemingly easy injury yet no real atrophy, maybe mild but not significant. I had one episode
of a huge pain in the orbital area of one eye, and this radiated down to my shoulder, it lasted about 4 months, and
subsided on its own but 12 tylenol 3's a day almost couldn't quench the pain it was so severe. The eye specialist
saw nothing abnormal, no damage, no inflammation, etc.
I personally do not know what to think, I've consulted (probably bothered) an increasingly large number of specialists
and they cannot explain anything. The only things that consistently show is an mildly elevated CK and a reduction
of acid maltase enzyme but not enough to label anything definitive. Most other tests are either normal or excellent.
I have existing Hashimoto's (15 yrs.) well controlled.
If you have a thought, I'm all for it!
Thanks for any suggestions, and your time.
1. You should see a neurologist personally. Also, a second opinion is never insulting.
2. You describe some muscle symptoms, such as fasiculations snd possible atrophy. The testing you describe point to muscles as well, such as the needle EMG results and the elevated CK. MS does not affect muscles themselves, but instead the Central Nervous System (CNS). ALS would not be so slow, but there is another diagnosis which should be considered (see below).
3. The acid maltase deficiency raises the possibility of Pompe's Disease.
This is a description of the adult form:
"Patients with the adult form may have no complaints until the second or third decade of life. Progressive weakness occurs into the sixth decade of life. The legs are affected more than the arms, with proximal muscles involved earlier than distal ones, and the pelvic girdle is more involved than the shoulder. Hepatomegaly and cardiomegaly usually are not seen; however, these conditions are sometimes seen in the terminal phase. This form of the disease may be confused with limb-girdle dystrophy or chronic polymyositis. The heart, liver, and CNS generally are uninvolved in the juvenile and adult forms of AMD."
The most common diagnostic tests are below:
Serum CK usually is elevated in the forms of the disease that affect younger patients, but CK can be within the reference range in the adult variety. CK levels can be as high as 2000 IU/L.
Serum aspartate aminotransferase and lactic dehydrogenase can also be elevated.
Muscle biopsy -- the tissue concentration level of acid maltase helps establish a definite diagnosis.
4. A lot of research is going into Pompe's, such as replacing the missing enzyme. Physical therapy is also very useful.
5. For the eye complaints, I would recommend a neuro=ophthalmologist.
Thank you for your interest, and yes, you've been helpful.
I have had two blood assay tests done for the Pompe disease,
and they were done by a special lab here, and they were termed
*borderline* so the scientist doing the testing could not call it
Pompe, despite a long discussion with the Neurologist.
I have had a continuing elevated CK, The reference range here is
about 30 to 160 I think, and mine is constantly 600, 700, 800, a few
times a bit less.
I had a VO2 max test done, lying and sitting, and passed it well.
That was tied into the Pompe idea.
I continually have had slightly low red cells, and a bit of elevated MCV,
I have been always told to try and exercise but when I do, my immunity
seems to tank and I get really sore, but not the type of sore that you
would normally associate with exercise.
While my knees for example, get pain, any x-rays show no abnormality
and virtually no arthritis, in fact, they keep telling me my joints are as
if they are half my age? So they so far cannot figure the pain out.
I have not had anyone do the LD test and the other was I think relatively
My general Neurological work-up is typically ok, although EMG showed
maybe minor nerve damage in the feet, but the few times it was done
showed conflicting results, yet I have numbness in the toes. A work-up
for lower leg blood pressure and blockages showed nothing so far.
My normal pressure is about 120/78.
My liver tests show normal, no regular elevated values. They have spoken to me about the tylenol, but tell me 10 a day is ok. I really
do not wish to take any, but they will not prescribe codeine phosphate
or other meds, and I'm not big on the things like Gabapenton for reasons
of costs, etc.
I still have massive fatigue, and a trial of a mitochondrial mixture of nutrients provided some value in energy.
Other nutrients to try and spare and calm muscle tissue have provided
mixed results I'd say.
I have no elevated Uric Acid, and ANA was negative. Polymyositis
was mentioned but is not being considered at this time.
Eye specialist had no answer for eye issues, but no problems since.
I continue to have shortness of breath at times, and myalgia with
massive fatigue as mentioned.
This is about where I stand currently. The Neurologist suggested that
perhaps I may have a progressing Pompe that just isn't over the line
of being a firm dx at the moment.
She is watching and waiting for the time being.
She has declined to do a biopsy saying it may or may not show us
anything, and is skeptical at this point if it's worth putting me through
it as it would have to be an open biopsy on the bicep.
Also, just as an added note, I also had alot of migraines recently, but I'm not sure if
that has any meaning. I've had migraine trouble off and on for about 18 years now.
I have a great concern about my left forearm and right knee. The muscle eruption in
the forearm for lack of a better explanation, seems to be some kind of permanent
injury or situation, and nobody has been able to tell me anything about what it is or
if it can be fixed. The MRI of it said it was just muscle tissue, but prior to that, the
ultrasound said it was a seemingly encapsulated mass of some sort, he figured a fatty
The knee is almost at the point of giving out on me at times, and seems to be originating
from the sides of the knee, it just goes weak if that helps at all.
All the other myalgia's kind of wax and wane in intensity, and the fatigue can do the same to some extent.but can be relentless.
Thanks alot for your interest.
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