Finding my muscular dystrophy through a muscle biopsy

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Prior to the age of genetic testing, one of the few ways to decipher if you had muscular dystrophy was to do a biopsy. I have had two muscle biopsies.

The first muscle biopsy was just before my diagnosis at age 13. The doctor took a piece of muscle from my calf through a small incision. Had I taken better care of the “wound” I wouldn’t have had much of a scar but I was 13. ┬áIt wasn’t painful and I was actually out playing tennis the very next day (against my doctor’s wishes).

After this biopsy they could tell the fibers were not normal and they also did whatever tests they do against the proteins, etc. My initial diagnosis was Becker muscular dystrophy.

About 15 years later I started seeing a new neurologist who wasn’t 100% sure that I had Becker and rather thought I might have Limb Girdle. So we decided to do another muscle biopsy. This time they took the sample from my quad many inches above my knee. The wound healed with a much less prominent scar and you can’t even see it when I am wearing shorts.

After examining the sample the pathologist determined it was likely I did have Becker muscular dystrophy and not Limb Girdle muscular dystrophy.

Although neither muscle biopsy was painful, they were both inconvenient. I would highly recommend genetic testing whenever possible. I have yet to go through the genetic testing process but if promising treatments started to come about I would definitely get tested to figure out exactly what particular DNA abnormalities have occurred so the proper treatment could be pursued.

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