Ryanodine Receptor 1 (RYR1) mutations can be broadly categorized as Central Core Myopathies.
To a varying degree this mutation, which at times can be autosomal dominant and at times recessive, can lead to weakness or arthrogrypotic (stiff muscles and joints) features.
RYR1 is one of the genes that can appear in the patients as Arthrogryposis and is treated similarly. The anesthesiologist must be aware that malignant hyperthermia is a risk in these individuals.
Genetic testing in the workup for weakness and genetic forms of Arthrogryposis.
Please see Arthrogryposis.