How to get tested for metabolic myopathies?

[Surely]

For three years I have been to specialists and have worked my way through referral to a rheumatologist. My main complaints are cramping and hyper-toned muscles, muscle spasms, exercise intolerance, pain due to these and also minor soft tissue injuries, some fasciculations and sleep disturbances. The orthopedists and PT's treated my various injuries, my GP found no pertinent abnormalities in my blood chemistry, my neurologist found 2 ruptured discs that seem to have healed and said I have Cramp Fasisculation syndrome and it would stabilize and abate (it didn't), and the rheumatologist found a few areas of osteoarthritis and DDD but I still have what started all the initial complaints and problems. He suggests that I see yet another neurologist (I've been to 2) to get a biopsy. So who do I see to get tested for a metabolic myopathy? The endocrinologists thought I should see the rheumatologist and now he is sending me on again. Sometimes I get the feeling that they don't really know what to do with me other than write a Rx. I have been given many drugs, some of which helped the symptoms but caused other problems making it difficult to work so I am taking NSAIDS for pain now. It seems to me that my stressed muscles are causing much of this. A major problem is that I am not able to exercise due to the pain and injuries and this is impacting my overall health (high cholesterol for one). Who normally does muscle biopsies? Suggestions are welcome.

[Tom Plamondon PA-C]

Sorry about the delayed response.
Your case is a complicated one. The main differential, in general, is Peripheral nerve hyperexcitability (PNH) which entails a spectrum of diseases or may be labeled as cramp fascicular syndrome or myotonic disorder and metabolic myopathy.
The basic mechanisms of each diagnoses are different. In PNH, auto immunity must be ruled out whereas in metabolic myopathy enzyme deficiencies should be ruled out.
Key diagnostic tests include EMG, muscle biopsy, CPK, CBC. Perhaps electrolyte panel. (a muscle biopsy which is a minor in-office procedure certainly can be done by a general surgeon and depending on experience GP may do one)
Also, for metabolic myopathy a test called forearm ischemia exercise test can be done. This messures the levels of lactic acid and ammonia in the blood before and after exercise to see if the muscles are able to use glucose and fats as their energy source. In metabolic myopathy, the problem is the body's inability to use either glucose or fat for motor activation.
The treatment for PNH includes anti convulsants or immune suppressants... therefore neurology or rheumatology respectively are appropriate.
Seeing that rheumatology, endocrinology, and neurology are already involved, it is reasonable to expect the family physician to serve a main person to bring all the test results into a collective picture and attempt to coordinate care.
Again the key question is: Is this metabolic myopathy (enzyme deficiency) or is it an autoimmune problem.

ps Let us know how things go.

[Surely]

Thank you for your reply. Yes, I agree that my case is difficult in that I seem to be lodged between specialists. I have not yet gone for any additional testing as I wanted to try exercising again to see what happened plus I do not like the idea of open-ended testing. Where my symptoms had lessened quite a bit while I was sedentary, they came back as soon as I became more physically active. It is not a normal soreness that one would get from working out or over-doing it; it occurs much more quickly after the activity - sometimes during it - and tapers off from the time of muscle use onward unlike normal muscle soreness. Plus there is an inordinate amount of strain on my joints because the muscles stay tight for a long time. However, I am still not able to find one person who will run these tests that you mentioned. The nuero-mucular specialist, if he decides to see me as he makes you do a questionnaire first, will do the muscle biopsy - I have no idea who would do the forearm ischemic exercise test yet. I really need one person to be 'at the helm' so I can stop this shuffling as it is getting me nowhere. My GP will do none of these as she feels that they are best handled by a specialist & I've put in a call to my neurologist to see if he has any insights but have not heard from him yet. He usually gets back to me but it may take making another appointment. Isn't there some field - physiology, kinesiology, that would deal with this type of malady? Any ideas?

[Tom Plamondon PA-C]

Hello,

Your best bet may be a physiatrist. He or she specializes in rehabilitative medicine. They could do EMG, nerve conduction velocity studies in the office and could order any other special tests and perhaps best coordinate your care. You probably would need a referral from your family physician.

Thanks for the update.

[Surely]

Thank you for your reply; I will call tomorrow to see if I can get an appointment with a physiatrist. This seems the best bet for me as all standard blood chemistries, neurological clinicals and EMG have come up close to normal to show that I am not neurologically, immunologically, or endocrine impaired. Since the rheumatoid specialist thinks I should investigate a metabolic problem, and I don't want to medicate myself into oblivion, it seems the only avenue left outside of a sedentary lifestyle. Perhaps since physiatrists are involved in rehab they will be more inclined to understand my need to be physically active rather than sedentary (even though this enables me to be relatively pain-free). I will write you with an update when test results and examinations are concluded. Thanks again.