RYR1-related disorders
Conditions
Interventions
Observation group:None
Sponsors
Peking University Third Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patients scheduled for elective surgeries related to conditions such as torticollis, atlas and axis vertebra, peroneal muscle atrophy, scoliosis, and spinal muscles, who are included after signing informed consent during preoperative visits; 2. Suspected MH patients or susceptible individuals collected nationwide, including those who have experienced MH, show suspicious clinical manifestations, or have a family history of MH; 3. Retrospective collection of neuromuscular disease patients from the neurology department’s peripheral neuropathy and neuromuscular disease databases, including those with a confirmed previous diagnosis and suspected RYR1-related disorders (RYR1-RD); 4. Retrospective collection of patients with RYR1 mutations who have already been registered for genetic testing at reproductive centers.
Exclusion criteria
Exclusion criteria: 1. Patients or guardians refuse to participate in the study or are unable to provide informed consent; 2. Patients with severe cardiovascular or pulmonary disease, liver or kidney dysfunction, or other serious systemic illnesses; 3. Patients already diagnosed with other known hereditary neuromuscular diseases (such as muscular dystrophy, myasthenia gravis, etc.); 4. Patients who are unable to complete follow-up for various reasons.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The incidence rate among people with malignant hyperthermia;Pathogenic mutation of RYR1; | — |
Countries
China
Contacts
Public ContactYingying Qu
Peking University Third Hospital
Outcome results
None listed