Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design
Background: Hypermobility is the capacity to perform joint movements in amplitudes greater than normal. Hypermobility is present in nearly 100 % of congenital myopathy central core disease (CCD) patients but is sporadically described in the allelic disease malignant hyperthermia (MH). Our objective...
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Elsevier
2025-01-01
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844025001562 |
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| author | Rita CCS. Santos Larissa FCDMS. Lima Pâmela V. Andrade Joilson M. Santos Leonardo Galleni Antonio FR. Junior Lucas S. Souza Beny Schmidt Acary SB. Oliveira José LG. Amaral Mariz Vainzof Helga CA. Silva |
| author_facet | Rita CCS. Santos Larissa FCDMS. Lima Pâmela V. Andrade Joilson M. Santos Leonardo Galleni Antonio FR. Junior Lucas S. Souza Beny Schmidt Acary SB. Oliveira José LG. Amaral Mariz Vainzof Helga CA. Silva |
| author_sort | Rita CCS. Santos |
| collection | DOAJ |
| description | Background: Hypermobility is the capacity to perform joint movements in amplitudes greater than normal. Hypermobility is present in nearly 100 % of congenital myopathy central core disease (CCD) patients but is sporadically described in the allelic disease malignant hyperthermia (MH). Our objective was to investigate the frequency/characteristics of hypermobility in MH susceptible patients as compared to a control group, aiming the identification of correlations between hypermobility and demographic/clinical findings in MH patients. Methods: We recruited 26 MH patients (MH history, positive in vitro contracture test (IVCT), no muscle weakness, no cores in muscle biopsy) and 23 controls (no MH/myopathy history). Patients/medical records were evaluated for obtaining demographic/clinical data. Hypermobility was assessed in all patients and controls with Bulbena score. Goniometry was performed in a subset of 11 patients and 11 controls. Results: Bulbena score indicative of hypermobility was significantly more frequent in MH than in the control group (50 % versus 13 %, relative risk 2.06 (95%CI 1.27–3.35), chi-square test, p < .01). Goniometric assessment revealed significantly greater range of motion of mostly proximal movements in MH versus control groups. In the MH group, there was no correlation of the Bulbena score with age, sex, clinical complaints of myalgia/cramps, CK levels, IVCT result, or degree of contracture after caffeine or halothane. Conclusions: It is possible that predominantly proximal hypermobility is part of a clinical spectrum associated with RYR1 gene variants, as it was present even when associated muscle weakness was not present. More studies are necessary to measure evolution and long-term impact of hypermobility in MH patients. |
| format | Article |
| id | doaj-art-59e6c77a57bb471fbb3cc7923d8e0c82 |
| institution | Kabale University |
| issn | 2405-8440 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj-art-59e6c77a57bb471fbb3cc7923d8e0c822025-02-02T05:28:09ZengElsevierHeliyon2405-84402025-01-01112e41776Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive designRita CCS. Santos0Larissa FCDMS. Lima1Pâmela V. Andrade2Joilson M. Santos3Leonardo Galleni4Antonio FR. Junior5Lucas S. Souza6Beny Schmidt7Acary SB. Oliveira8José LG. Amaral9Mariz Vainzof10Helga CA. Silva11MH Diagnosis and Investigation Study Centre (CEDHIMA: Centro de Estudo, Diagnóstico e Investigação de Hipertermia Maligna) - Anesthesiology, Pain and Intensive Therapy Department - Universidade Federal de São Paulo, São Paulo, SP, BrazilMH Diagnosis and Investigation Study Centre (CEDHIMA: Centro de Estudo, Diagnóstico e Investigação de Hipertermia Maligna) - Anesthesiology, Pain and Intensive Therapy Department - Universidade Federal de São Paulo, São Paulo, SP, BrazilMH Diagnosis and Investigation Study Centre (CEDHIMA: Centro de Estudo, Diagnóstico e Investigação de Hipertermia Maligna) - Anesthesiology, Pain and Intensive Therapy Department - Universidade Federal de São Paulo, São Paulo, SP, BrazilMH Diagnosis and Investigation Study Centre (CEDHIMA: Centro de Estudo, Diagnóstico e Investigação de Hipertermia Maligna) - Anesthesiology, Pain and Intensive Therapy Department - Universidade Federal de São Paulo, São Paulo, SP, BrazilBioscience Institute, Human Genome and Stem Cells Research Center - University of São Paulo, São Paulo, SP, BrazilBioscience Institute, Human Genome and Stem Cells Research Center - University of São Paulo, São Paulo, SP, BrazilBioscience Institute, Human Genome and Stem Cells Research Center - University of São Paulo, São Paulo, SP, BrazilDepartment of Pathology, Universidade Federal de São Paulo, São Paulo, SP, BrazilDepartment of Neurology, Universidade Federal de São Paulo, São Paulo, SP, BrazilMH Diagnosis and Investigation Study Centre (CEDHIMA: Centro de Estudo, Diagnóstico e Investigação de Hipertermia Maligna) - Anesthesiology, Pain and Intensive Therapy Department - Universidade Federal de São Paulo, São Paulo, SP, BrazilBioscience Institute, Human Genome and Stem Cells Research Center - University of São Paulo, São Paulo, SP, BrazilMH Diagnosis and Investigation Study Centre (CEDHIMA: Centro de Estudo, Diagnóstico e Investigação de Hipertermia Maligna) - Anesthesiology, Pain and Intensive Therapy Department - Universidade Federal de São Paulo, São Paulo, SP, Brazil; Corresponding author. Brazilian Malignant Hyperthermia Center. University Federal São Paulo, Rua Pedro Toledo, 781, SP, 04039-032, Brazil.Background: Hypermobility is the capacity to perform joint movements in amplitudes greater than normal. Hypermobility is present in nearly 100 % of congenital myopathy central core disease (CCD) patients but is sporadically described in the allelic disease malignant hyperthermia (MH). Our objective was to investigate the frequency/characteristics of hypermobility in MH susceptible patients as compared to a control group, aiming the identification of correlations between hypermobility and demographic/clinical findings in MH patients. Methods: We recruited 26 MH patients (MH history, positive in vitro contracture test (IVCT), no muscle weakness, no cores in muscle biopsy) and 23 controls (no MH/myopathy history). Patients/medical records were evaluated for obtaining demographic/clinical data. Hypermobility was assessed in all patients and controls with Bulbena score. Goniometry was performed in a subset of 11 patients and 11 controls. Results: Bulbena score indicative of hypermobility was significantly more frequent in MH than in the control group (50 % versus 13 %, relative risk 2.06 (95%CI 1.27–3.35), chi-square test, p < .01). Goniometric assessment revealed significantly greater range of motion of mostly proximal movements in MH versus control groups. In the MH group, there was no correlation of the Bulbena score with age, sex, clinical complaints of myalgia/cramps, CK levels, IVCT result, or degree of contracture after caffeine or halothane. Conclusions: It is possible that predominantly proximal hypermobility is part of a clinical spectrum associated with RYR1 gene variants, as it was present even when associated muscle weakness was not present. More studies are necessary to measure evolution and long-term impact of hypermobility in MH patients.http://www.sciencedirect.com/science/article/pii/S2405844025001562Central core diseaseGoniometryJoint instabilityMalignant hyperthermiaMyopathyRyanodine receptor gene |
| spellingShingle | Rita CCS. Santos Larissa FCDMS. Lima Pâmela V. Andrade Joilson M. Santos Leonardo Galleni Antonio FR. Junior Lucas S. Souza Beny Schmidt Acary SB. Oliveira José LG. Amaral Mariz Vainzof Helga CA. Silva Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design Heliyon Central core disease Goniometry Joint instability Malignant hyperthermia Myopathy Ryanodine receptor gene |
| title | Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design |
| title_full | Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design |
| title_fullStr | Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design |
| title_full_unstemmed | Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design |
| title_short | Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design |
| title_sort | report of joint hypermobility in malignant hyperthermia susceptible patients observational study with a case control descriptive design |
| topic | Central core disease Goniometry Joint instability Malignant hyperthermia Myopathy Ryanodine receptor gene |
| url | http://www.sciencedirect.com/science/article/pii/S2405844025001562 |
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