This is an inherited form of muscle weakness and varies in severity from mild weakness to severe disability. RYR-1 related diseases are conditions caused by changes (mutations) in the RYR-1 gene. “There are two main types of inheritance patterns for changes in the RYR-1 gene: autosomal recessive and autosomal dominant. “Common symptoms include weakness of the eye muscles (opthalmoparesis) and generalised muscle weakness, typically affecting the muscles closest to the torso of the body (proximal muscle weakness),” Dr Genga says. Some individuals, however, experience muscle cramping and pain, reduced exercise tolerance, and intolerance to heat.

Source: Standard Digital September 28, 2020 06:56 UTC