Genetic Sequencing and PMR
I was Dx with PMR about 30 years ago. About 4 years ago I had my genome sequenced with the discovery of a variant of “unknown clinical significance but suspicious for pathogenicity for calpainopathy.” Calpainopathy, or limb-girdle muscular dystrophy type 2A (LGMD2A), I have is due to variant v.338T>C (p.lle113Thr). I really do not understand what all these letters and numbers mean.
LGMD2A affects the major muscles of the shoulders and hips, which is exactly where I had pain for no reason 30 years ago and was Dx with PMR and put on prednisone which "cured" my pain within 6 hours. This pain through my shoulder and hip girdles I had had for years and just blamed it on extensive exercise. The problem was for some reason I hadn't exercised for 5 days.
QUESTION: Have others on this forum had their genome sequenced and found any variants of unknown clinical significance but suspicious for pathogenicity for calpainopathy?