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:
Ryanodine Receptor 1 (RYR1) mutations can be broadly categorized as Central Core Myopathies and Congenital Muscular Dystrophy.
To a varying degree this mutation, which at times can be autosomal dominant and at times recessive, can lead to weakness of muscles or arthrogrypotic (stiff muscles and joints) features.
RYR1 is one of the genes that can appear in patients as Arthrogryposis and is treated similarly. The anesthesiologist must be aware that malignant hyperthermia is a risk in these individuals.
While the approach to RYR1 is similar to other patients with arthrogryposis, the persistent weakness must be taken into consideration with regard to the surgical approach and subsequent physical therapy.
For treatment please see Arthrogryposis.
Diagnosis Methods:
Genetic testing in the workup for weakness and genetic forms of Arthrogryposis.
Treatments:
Please see Arthrogryposis.
