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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.

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West Palm Beach Paley Institute
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Paley European Institute Medicover Hospital
Al. Rzeczpospolita 1
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