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Muscle Disease
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Muscle Disease

I am a 48 year old woman and approximately a year ago, I stated having leg weakness and excruciating calf muscle and overall leg pain. Now I can barely walk; tip toe on right leg because of muscle atrophy; all over leg, bottom of foot, upper arm, shoulder, and neck muscle pain and weakness.  I experience muscle cramping, constant eye twitching, and here lately, seem to have started having some problems with my memory.  In October of last year I weighed 170 ~ I now weigh 121.

Had blood work done numerous times and my CK level was always elevated - not severely, but elevated (I think highest was around the 500 range). Had two abnormal EMG's and then had a muscle biopsy.

Biopsy showed "many patchy areas of decreased oxidative enzymes noted in NAHD reaction and affect both fiber types.  These fibers are called moth-eaten fibers are are commonly seen in limb-girdle, Facio-Scapular, and Oculopharyngeal Muscular Dystrophies.  No evidence of myopathy, denervation, reinnervation, inflammation, or metabolic muscle disease.  No evidence of mitochondrial dysfunction."

Went to doctor at MDA in Medical Center and she told me that yes, I most absolutely have muscle disease and that she is positively sure about that and that this will be a chronic condition that I will more than likely have to deal with for the rest of my life.  The problem:  She doesn't know what kind of muscle disease it is.

I was just wondering if there were others who are or have endured this same situation and have been told, 'Yes you most positively have muscle disease, but we don't know and may never know the form of it.'  

I might add that I also have an Orbital Sclerosing Pseudotumor, Gastroparesis, and Colon Dysmotility ~ all muscle problems.

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I don't know if this will help, but my Dad developed a problem where the flesh on his left hand and forearm started to atrophy quite rapidly. Shortly thereafter, he started experiencing atrophy of his left leg and started having difficulty walking. He's also started experiencing headaches more commonly than before and is having difficulty with muscle cramping. That's about where the similarities end in your case, but I thought I'd at least list what helped him in figuring out what it was.
He ended up thinking it was nerve related, because of the cramping and the way the pain felt. He went to see a multitude of neurologists who eventually figured out that he had something called MAMA, Multifocal Acquired Motor Axonopathy. If you google it you should find several links to peer-reviewed medical journal articles that might be able to give you more information.
Even if you don't think you have MAMA, I would suggest that you perhaps go down the avenue of exploring some sort of nerve correlation. More often than not, at least as far as I know, muscle atrophy seems to be more related to nerve issues than some sort of muscle disease. But then again, I'm not a doctor. But I certainly think it'd be worth your time to see a neurologist or two to be evaluated and if nothing else, rule things out, if you haven't seen one already.
Good luck!!
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Our next door neighbor in Florida had your same symptoms.  They tried and tried to find out why a place on his hands was atrophying and his leg as well.  Turns out he had Lyme Disease.  
Hope you find a diagnosis soon.
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