Recent content by keane

I haven't heard about a relationship with these liver enzymes and Wilson's disease, but there is a high correlation between elevated liver enzymes and the glycogen storage diseases, especially in the case of the disease I have, late onset acid maltase deficiency, GSD type 2. Also, patients and...

Although in general it seems that compassion has left our society, I've been pleasantly surprised by a few people since becming ill. Initially, my doctors suspected ALS, but I was finally diagnosed with a rare, progressive myopathy called acid maltase deficiency. I still keep in touch with...

A few years ago, I experienced a situation where a nerve was being slowly, progressively pinched. This usually occurs without being related to a specific disease, but in my case it is a common occurance with my degenerative joint disease. I did not notice loss of feeling in the left arm, and...

After 10 years of taking lipitor, my company began a program where I receive free refills for most generic drugs. Being very frugal by nature, I discussed with my doctor and changed to simvastin. It was shortly after this that my symptoms for adult Pompe/acid maltase deficiency went into...

I was wondering: Did you weakness ebb and flow in short time periods, such as a few days when under stress? I have good days and bad, but since I work in a stressful job, I notice that the weakness and fatigue build daily through the week, then I try to rest on weekends Do you quickly get...

I saw this post and really wanted to reply, but I'm not sure if my thoughts are biased. About ten years ago I lived in Georgia when I began to notice that my thighs were beginning to weaken. the progression to other areas was like a creeping feeling that progressed day by day. My other...

I'm going through a similar situation and was fortunate that I went to the Mayo clinic. I wonder if a similar multidicipline approach might be helpful in your case. Initially, I did not have respiratory weakness, but I was diagnosed with adult acid maltase deficiency based on arm, back and hip...

I think there are aspects of this phenomenon that you might need to recognize. I apologize in advance because I have recently been diagnosed with an often fatal disease that is usually misdiagnosed. What if you went through the entire process you described, but ultimately instead of being told...

One thing that even many neurologists don't quite understand is that adult onset mito diseases and metabolic myopathies can present with a wide array of initial presenting symptoms. Initially, I was concerned with hand and forearm weakness, cramps and twitches. My final diagnosis? Of...

I've been away from this site for a while, and I saw that I had some unanswered questions from a previous post. In a nutshell, I attended the Mayo clinic, where I was initially told I had a metabolic myopathy. Sorry that I have not returned to this site for a while. I came down with a cold...

In a previous thread, I mentioned recent problems with atrophy and weakness, primarily in the hands and arms. Last week, a visit to the Mayo clinic revealed the presence of a metabolic myopathy resulting from an inherited mitochondrial mutation. Fortunately, they were able to overnight the...

At the time I was referred to the Mayo clinic, my only clinical weakness was in the left arm. It was hard for him to make an opinion on atrophy when my bicep was 18 1/2 inches on my weak arm 6 months ago, and the forearm was 16 inches. Now, both have shrunck over an inch and a half, so they...

I'm in the process of getting all of my records together for an umcoming referral to the Mayo clinic. On my last Nerologist visit, he indicated that he was basically stumped and only time will tell. He really thought I should go to the Mayo for 2nd opinion. He briefly discussed my MRI, but...

As a former supervisor of many employees, I found that most companies should have a Summary Plan Description (SPD) available for the various employee levels. Some are even available online. Since requirements can change from state to state, the SPD should list all of the criteria for your...

This probably doesn't occur very often, but I learned from a recent experience to question my neurologist about the possibility of my medications masking symptoms that could help in diagnosis. My neuro was aware that I have a severe degenerative joint disease and attend pain management therapy...