Muscle breakdown rhabdomyolysis
Conditions
Interventions
None listed
Sponsors
Canisius Wilhelmina Ziekenhuis
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Inclusion criteria RYR1 patients * Genetically proven RYR1 variant * Indication for an IVCT in the context of routine clinical care * Age 18 * 65 years old Inclusion critera healthy controls * Indication for surgery of the upper leg in the context of routine clinical care, e.g. removal of osteosynthesis material or elective orthopaedic surgery of the upper leg. * Age 18 * 65 years old
Exclusion criteria
Exclusion criteria: Exclusion criteria RYR1 patients * Another family member is included in the study * An MH reaction, EHS, ER, compartment syndrome, ischaemia of the lower extremities, trauma of the upper legs or rhabdomyolysis due to another aetiology in the past 4 months. * A viral infection in the past week * Other neuromuscular disorders than RYR1 related MH/ER/EHS * Patients using systemic corticosteroids during the last 3 months * Pregnancy or lactating * No written informed consent by the patient Exclusion criteria healthy controls * A history of a RYR1 variant * Another family member is included in the study * A history or a family history of a RYR1 related disease (MH, EHS, ER, central core disease, multi-minicore disease) * A history of a neuromuscular disorder * Patients using systemic corticosteroids during the last 3 months * Patients with a current compartment syndrome, planned for fasciotomy * Patients with current ischaemia of the lower extremities with an indication for vascular surgery or amputation. * Patients with current trauma of the upper legs and an indication for surgery. * A compartment syndrome, ischaemia of the lower extremities, trauma of the upper legs or rhabdomyolysis due to another aetiology in the past 4 months. * A viral infection in the past week. * Pregnancy or lactating * No written informed consent by the patient
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary endpoint of the study is the number of positive IVCT*s in the extended protocol in the RYR1 group compared to the healthy control group. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary endpoints of the study are the concentration of caffeine and halothane leading to a pathological contracture in the extended IVCT in the RYR1 group compared to the healthy controls. Other secondary endpoints are the results of a questionnaires study focused on neuromuscular and heat intolerance complains during exercise and a family history of EHS. | — |
Countries
Netherlands
Outcome results
None listed