Confusion

My 16 year old daughter has contractures in her Achilles tendons, resulting in foot drop and toe walking for years. We did genetic testing which found that she has one variant for Limb Girdle Muscular Dystrophy type 2A.

The doctor explained that perhaps because she has one variant rather than two, that she may have a milder form of it. Upon Googling it, I read it could happen but it’s rare.

Has anyone ever heard of this happening? Also, does anyone in here have LGMD 2A and what are your symptoms?

There is a family history of CMT and we suspected it may be that, so this came as a surprise.