Diagnosis of MH Susceptibility

The preferred first line of investigation for a patient presenting to the neurology clinic with features associated with MH susceptibility is DNA analysis.  If a variant in the RYR1 gene is found, it will fall into one of the following categories:

  • Known benign variant, eg common polymorphism
  • Pathogenic for myopathy and MH susceptibility
  • Pathogenic for myopathy but not pathogenic for MH susceptibility
  • Pathogenic for myopathy but significance for MH susceptibility unknown
  • Variant of unknown significance

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