Description:
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.
My Approach:
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.
Diagnosis Methods:
Genetic testing in the workup for weakness and genetic forms of Arthrogryposis.
Treatments:
Please see Arthrogryposis.
