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Rare disease with malignant hyperthermia

MedGen UID:
1813067
•Concept ID:
C5681128
•
Disease or Syndrome
Related genes: STAC3, SELENON, RYR1, CACNA1S
 
Orphanet: ORPHA466658

Term Hierarchy

Professional guidelines

PubMed

Neuroleptic malignant syndrome: A neuro-psychiatric emergency: Recognition, prevention, and management.
Velamoor R
Asian J Psychiatr 2017 Oct;29:106-109. Epub 2017 May 4 doi: 10.1016/j.ajp.2017.05.004. PMID: 29061403
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article
Consensus statement on the loco-regional treatment of appendiceal mucinous neoplasms with peritoneal dissemination (pseudomyxoma peritonei).
Moran B, Baratti D, Yan TD, Kusamura S, Deraco M
J Surg Oncol 2008 Sep 15;98(4):277-82. doi: 10.1002/jso.21054. PMID: 18726894

Recent clinical studies

Etiology

Survival After Hyperthermic Intraperitoneal Chemotherapy and Primary or Interval Cytoreductive Surgery in Ovarian Cancer: A Randomized Clinical Trial.
Lim MC, Chang SJ, Park B, Yoo HJ, Yoo CW, Nam BH, Park SY; HIPEC for Ovarian Cancer Collaborators
JAMA Surg 2022 May 1;157(5):374-383. doi: 10.1001/jamasurg.2022.0143. PMID: 35262624Free PMC Article
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article
Multi-minicore Disease.
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Diagnosis

Malignant syndromes: current advances.
Tao M, Li J, Wang X, Tian X
Expert Opin Drug Saf 2021 Sep;20(9):1075-1085. Epub 2021 Apr 26 doi: 10.1080/14740338.2021.1919622. PMID: 33866917
Multi-minicore Disease.
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article
Central core disease.
Jungbluth H
Orphanet J Rare Dis 2007 May 15;2:25. doi: 10.1186/1750-1172-2-25. PMID: 17504518Free PMC Article
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Therapy

Survival After Hyperthermic Intraperitoneal Chemotherapy and Primary or Interval Cytoreductive Surgery in Ovarian Cancer: A Randomized Clinical Trial.
Lim MC, Chang SJ, Park B, Yoo HJ, Yoo CW, Nam BH, Park SY; HIPEC for Ovarian Cancer Collaborators
JAMA Surg 2022 May 1;157(5):374-383. doi: 10.1001/jamasurg.2022.0143. PMID: 35262624Free PMC Article
Malignant syndromes: current advances.
Tao M, Li J, Wang X, Tian X
Expert Opin Drug Saf 2021 Sep;20(9):1075-1085. Epub 2021 Apr 26 doi: 10.1080/14740338.2021.1919622. PMID: 33866917
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR
Acta Neuropathol 2020 Jun;139(6):1089-1104. Epub 2020 Mar 31 doi: 10.1007/s00401-020-02150-w. PMID: 32236737Free PMC Article
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K
Orphanet J Rare Dis 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. PMID: 17456235Free PMC Article
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Prognosis

Malignant syndromes: current advances.
Tao M, Li J, Wang X, Tian X
Expert Opin Drug Saf 2021 Sep;20(9):1075-1085. Epub 2021 Apr 26 doi: 10.1080/14740338.2021.1919622. PMID: 33866917
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR
Acta Neuropathol 2020 Jun;139(6):1089-1104. Epub 2020 Mar 31 doi: 10.1007/s00401-020-02150-w. PMID: 32236737Free PMC Article
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article
Multi-minicore Disease.
Jungbluth H
Orphanet J Rare Dis 2007 Jul 13;2:31. doi: 10.1186/1750-1172-2-31. PMID: 17631035Free PMC Article
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412

Clinical prediction guides

Patient suspected susceptibility to malignant hyperthermia: impact of the disease.
Rodrigues G, Andrade PV, Santos JMD, Castro I, Amaral JLGD, Silva HCAD
Braz J Anesthesiol 2023 Mar-Apr;73(2):138-144. Epub 2022 Feb 2 doi: 10.1016/j.bjane.2021.10.021. PMID: 35121058Free PMC Article
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR
Acta Neuropathol 2020 Jun;139(6):1089-1104. Epub 2020 Mar 31 doi: 10.1007/s00401-020-02150-w. PMID: 32236737Free PMC Article
Neuroleptic malignant syndrome: A neuro-psychiatric emergency: Recognition, prevention, and management.
Velamoor R
Asian J Psychiatr 2017 Oct;29:106-109. Epub 2017 May 4 doi: 10.1016/j.ajp.2017.05.004. PMID: 29061403
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ
Orphanet J Rare Dis 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. PMID: 23919265Free PMC Article
The association of malignant hyperthermia and unusual disease: when you're hot you're hot or maybe not.
Davis PJ, Brandom BW
Anesth Analg 2009 Oct;109(4):1001-3. doi: 10.1213/ane.0b013e3181b493d4. PMID: 19762721

Recent systematic reviews

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ
Orphanet J Rare Dis 2020 May 7;15(1):113. doi: 10.1186/s13023-020-01384-x. PMID: 32381029Free PMC Article
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.
Kraeva N, Sapa A, Dowling JJ, Riazi S
Can J Anaesth 2017 Jul;64(7):736-743. Epub 2017 Mar 21 doi: 10.1007/s12630-017-0865-5. PMID: 28326467

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