A muscle biopsy is the key test to confirming a diagnosis of Minicore Myopathy, due to the fact the condition causes "core" like structures seen only under a microscope while examining a piece of muscle tissue of a patient.
What does it involve?
It is a fairly straight forward precedure. Usually given under general anesthetic (though in rare cases local) a small piece of muscle tissue is taken from the patients thigh/upper arm muscle. The incision is the size of a grain of rice and disolvable stitches are commonly used. The child/adult is "under" but 5-10 minutes and the incision will be covered over with a small plaster for a week or so.
What should I expect after the procedure?
The patient may experience grogginess afterwards as the anesthetic wears off. In rare cases it's been known for young children to have anger outbursts when coming round from anesthesia. This is short lived and the child normally returns to his/her normal self within 10-30 minutes and often doesn't recall their behavior during waking.
Many of people have reported the muscle that the sample was taken from to be tender and sore for upto a few weeks after. Depending upon the severity of the patients mobility prior to the biopsy will be a great factor. For example some children who are struggling to weight bare/have gait issues may have a slightly more awkward gait or more frequent falls during recovery. This is temporary as the muscle heals but because the child is already weak it's common to see a temporary deterioation in mobility. Though in other cases some patients have no effects from the small precedure at all.
What will we get the results?
This all depends on which hospital did the biopsy and where they plan to send it to. For a diagnosis of this particular condition the muscle biopsy is often shipped abroad to either Holland, France or Boston USA to confirm diagnosis. This can taken upto a month or more. We advise you get a clear picture from the doctor involved as to the plan of action regarding diagnosis from muscle biopsy.