This is a protocol for a Cochrane Review (intervention). The objectives are as follows:

Primary objective

To analyse the benefits and harms of pharmacological or other interventions (e.g. special diet, exercise programme) compared with placebo or standard care for RYR1-related disorders, including both permanent myopathies and intermittent (episodic) presentations (exertional myalgia and rhabdomyolysis), with the aim to improve motor and respiratory function and/or to reduce the frequency of episodes, respectively.

Secondary objectives

• To assess whether the interventions, compared with placebo or standard of care, change the outcome of RYR1-related diseases.

• To assess whether the interventions, compared with placebo or usual care, change the expression of the disease state in patients with RYR1-related diseases.

• To identify a set of standardised outcome tools to be used in future studies.