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Malignant Hyperthermia Susceptibility : Synonym: Malignant Hyperpyrexia
Rosenberg H, Sambuughin N, Riazi S, et al.
GeneReviews® [Internet], 2020
Revue : GeneReviews® [Internet] Titre : Malignant Hyperthermia Susceptibility : Synonym: Malignant Hyperpyrexia Type de document : Article Auteurs : Rosenberg H ; Sambuughin N ; Riazi S ; Dirksen R Année de publication : 16/01/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; biopsie musculaire ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic clinique ; diagnostic différentiel ; diagnostic moléculaire ; dystrophie musculaire de Becker ; dystrophie musculaire de Duchenne ; dystrophie myotonique de type 1 ; dystrophie myotonique de type 2 ; examen clinique ; gène CACNL1A3 ; gène RYR1 ; génétique moléculaire ; grossesse ; hyperthermie maligne ; myopathie à central core ; myopathie à multiminicores ; myotonie congénitale ; paralysie périodique familiale hypokaliémique ; physiopathologie ; prévalence ; prévention des complications ; recommandation ; rhabdomyolyse ; susceptibilité génétique ; syndrome malin des neuroleptiques ; test de contracture ; thyréotoxicose Résumé : Initial Posting: December 19, 2003; Last Update: January 16, 2020.
Clinical characteristics.
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
Diagnosis/testing.
The diagnosis of MHS is established with in vitro muscle contracture testing by measuring the contracture responses of biopsied muscle samples to halothane and graded concentrations of caffeine. The diagnosis of MHS can also be established by identification of a pathogenic variant in CACNA1S, RYR1, or STAC3 on molecular genetic testing.
Management.
Treatment of manifestations: Early diagnosis of an MH episode is essential. Successful treatment of an acute episode of MH includes: discontinuation of potent inhalation agents and succinylcholine; increase in minute ventilation to lower end-tidal CO2; use of MHAUS helpline; administration of dantrolene sodium intravenously; cooling measures if body temperature is >38.5° C; treatment of cardiac arrhythmias if needed (do not use calcium channel blockers); monitoring blood gases, serum concentrations of electrolytes and CK, blood and urine for myoglobin, and coagulation profile; treatment of metabolic abnormalities.
Prevention of primary manifestations: Individuals with MHS should not be exposed to potent volatile agents and succinylcholine. Individuals undergoing general anesthetics that exceed 30 minutes in duration should have their temperature monitored using an electronic temperature probe. Individuals with MHS should carry proper identification as to their susceptibility.
Agents/circumstances to avoid: Avoid potent inhalation anesthetics and succinylcholine. Calcium channel blockers should not be given together with dantrolene due to a potential cardiac depressant effect. Serotonin antagonist (5HT3-antagonist) antiemetics should be used cautiously. Individuals with MHS should avoid extremes of heat, but not restrict athletic activity unless there is a history of overt rhabdomyolysis and/or heat stroke. Strenuous activities at high ambient temperatures should be avoided or performed with caution. In individuals with MH undergoing cardiac bypass surgery, aggressive rewarming should be avoided, as it may be associated with development of clinical signs of MH.
Evaluation of relatives at risk: If the MHS-causative pathogenic variant in the family is known, molecular genetic testing can be used to established increased risk of MH in a heterozygous individual; molecular genetic testing alone cannot be used to identify family members who are not at increased risk for MH due to other possible genetic risk factors. If the pathogenic variant in the family is not known or if an at-risk relative is found to be negative for a familial pathogenic variant, muscle contracture testing can be used to assess susceptibility to MH.
Pregnancy management: If a pregnant woman with MHS requires a non-emergent surgery, a non-triggering anesthetic (local, nerve block, epidural, spinal anesthesia, or a total intravenous general anesthetic) should be administered. Continuous epidural analgesia is highly recommended for labor and delivery. If a cesarean delivery is indicated in a woman who does not have an epidural catheter in place, neuraxial (spinal, epidural, or combined spinal-epidural) anesthesia is recommended (if not otherwise contraindicated). If a general anesthetic is indicated, a total intravenous anesthetic technique should be administered, with an anesthesia machine that has been prepared for an MH-susceptible individual.
Genetic counseling.
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder. Most individuals diagnosed with MHS have a parent with MHS, although the parent may not have experienced an episode of MH. The proportion of individuals with MHS caused by a de novo pathogenic variant is unknown. Each child of an individual with MHS has a 50% chance of inheriting a causative pathogenic variant. Prenatal teesting for a pregnancy at increased risk is possible if there is a known MH pathogenic variant in the family.Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301325 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The Spectrum of Neuromuscular Disorders Admitted to a Pediatric Intensive Care Unit Is Broader Than Anticipated
Finsterer J
Journal of child neurology, 2019
Revue : Journal of child neurology Titre : The Spectrum of Neuromuscular Disorders Admitted to a Pediatric Intensive Care Unit Is Broader Than Anticipated Type de document : Article Auteurs : Finsterer J, Auteur Editeur : United States Année de publication : 12/2019 Langues : Anglais (eng) Mots-clés : diagnostic clinique ; lettre ; maladie neuromusculaire ; pédiatrie ; unité de soins intensifs Pubmed / DOI : Pubmed : 31868086 / DOI : 10.1177/0883073819894852
N° Profil MNM : 2019122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31868086 Voir aussi
Acute Neuromuscular Disorders in the Pediatric Intensive Care Unit
Harrar DB, Darras BT, Ghosh PS
Journal of child neurology, 2019, 35, 1, p 17
Response to "The Spectrum of Neuromuscular Disorders Admitted to a Pediatric ICU Is Broader Than Anticipated"
Harrar DB, Darras BT, Ghosh PS
Journal of child neurology, 2020
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The neuro-ophthalmology of inherited myopathies
Watson E, Ahmad K, Fraser CL
Current opinion in ophthalmology, 2019, 30, 6, p 476
Revue : Current opinion in ophthalmology, 30, 6 Titre : The neuro-ophthalmology of inherited myopathies Type de document : Article Auteurs : Watson E, Auteur ; Ahmad K ; Fraser CL Editeur : United States Année de publication : 11/2019 Pages : p 476 Langues : Anglais (eng) Mots-clés : article de synthèse ; diagnostic clinique ; diagnostic moléculaire ; maladie mitochondriale ; maladie neuromusculaire ; ophtalmologie ; revue de la littérature Pubmed / DOI : Pubmed : 31436541 / DOI : 10.1097/ICU.0000000000000610
N° Profil MNM : 2019091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31436541 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp A, Laforêt P, Bello L, et al.
Journal of neurology, 2019
Revue : Journal of neurology Titre : European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A) Type de document : Article Auteurs : Barp A, Auteur ; Laforêt P ; Bello L ; Tasca G ; Vissing J ; Monforte M ; Ricci E ; Choumert A ; Stojkovic T ; Malfatti E ; Pegoraro E ; Semplicini C ; Stramare R ; Scheidegger O ; Haberlova J ; Straub V ; Marini-Bettolo C ; Lokken N ; Diaz-Manera J ; Urtizberea JA ; Mercuri E ; Kyncl M ; Walter MC ; Carlier RY Editeur : Germany Année de publication : 09/2019 Langues : Anglais (eng) Mots-clés : calpaïne 3 (maladie liée à) ; diagnostic clinique ; dystrophie musculaire des ceintures ; évolution de la maladie ; IRM ; LGMDR1 ; maladie neuromusculaire ; marqueur biologique Pubmed / DOI : Pubmed : 31555977 / DOI : 10.1007/s00415-019-09539-y
N° Profil MNM : 2019093 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31555977 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A
Zanette G, Tamburin S, Taioli F, et al.
Muscle & Nerve, 2019, 60, 6, p 744
Revue : Muscle & Nerve, 60, 6 Titre : Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A Type de document : Article Auteurs : Zanette G, Auteur ; Tamburin S ; Taioli F ; Lauriola MF ; Badari A ; Ferrarini M ; Cavallaro T ; Fabrizi GM Année de publication : 08/2019 Pages : p 744 Langues : Anglais (eng) Mots-clés : CMT1A ; conduction nerveuse ; diagnostic clinique ; évolution de la maladie ; maladie de Charcot-Marie-Tooth ; maladie neuromusculaire ; marqueur biologique ; recherche biomédicale Pubmed / DOI : Pubmed : 31469427 / DOI : 10.1002/mus.26688
N° Profil MNM : 2019091 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31469427 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Acute Neuromuscular Disorders in the Pediatric Intensive Care Unit
Harrar DB, Darras BT, Ghosh PS
Journal of child neurology, 2019, 35, 1, p 17
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Ocular Weakness in Myasthenia Gravis: Changes in Affected Muscles are a Distinct Clinical Feature
de Meel RHP, Raadsheer WF, van Zwet EW, et al.
Journal of Neuromuscular Diseases, 2019, 6, 3, p 369
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Compensation du membre supérieur : une urgence ! : L'actu
Robert-Giraudel A
VLM. Vaincre les myopathies, 2018, 184, p. 8-10
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Consejo genético y enfermedades neuromusculares : Traducción de 2018 del texto original Enero 2008 de la AFM-Téléthon.
Schanen-Bergot MO, Desport JC, Gottrand F, et al.
Repères, Savoir & Comprendre, 2018, p. 12
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El diagnostico de las enfermedades neuromusculares : Traduccion de 2018 del texto original 2017 de la AFM-Téléthon.
Schanen-Bergot MO, André C, Leturcq F, et al.
Repères, Savoir & Comprendre, 2018, 12 p.
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La recherche animale : une étape sur le chemin du médicament : Le dossier 01
VLM. Vaincre les myopathies, 2017, 182, p .20-21
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Diagnostic des maladies neuromusculaires
Schanen-Bergot MO, André C, Leturcq F, et al.
Repères, Savoir & Comprendre, 2017, 12 p
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Myasthenia Gravis and Crisis: Evaluation and Management in the Emergency Department
Roper J, Fleming ME, Long B, et al.
The Journal of emergency medicine, 2017, 53, 6, p 843
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Sur la technique des biopsies musculaire (III). L'apport de la microscopie électronique, hier, et à l'heure de la génétique moléculaire : Un survol historique.
Fardeau M, Rouche A, Vassilopoulos S, et al.
Les Cahiers de Myologie, 2016, 32, HS 2, p 6
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Orientation diagnostique d'un cas de "rigid spine" familial par IRM musculaire corps entier : [Les cahiers de Myologie]
Cavassa E, Tordjman M, Ferreiro A, et al.
Les Cahiers de Myologie, 2016, Vol.32, Hors série n°2, p.14-16
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Myopathie de Duchenne et constipation : une association fréquente et souvent négligée
Urtizberea JA
2016
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Potentiels évoqués vestibulaires myogéniques oculaires (oVEMP) : un test diagnostique pour la myasthénie auto-immune ?
Brignol TN
Les Cahiers de Myologie, 2016, 13, p. 75
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Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy.
Tarnopolsky MA, Hatcher E, Shupak R
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2016, 43, 3, p. 381-384
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Maladie de Steinert et dysphagie : les soignants et les aidants familiaux moins inquiets que les spécialistes
Urtizberea JA
2016
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Myology 2016 : 5th International Congress of Myology ; Posters n° 189 to 207 - Metabolic and Mitochondrial Disorders
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 113-122
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Myology 2016 : 5th International Congress of Myology ; Posters n° 208 to 211 - Hereditary neuropathies
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 122-124
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Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations
Liu XY, Jin M, Wang ZQ, et al.
Chinese medical journal, 2016, 129, 12, p 1425
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La génétique : un moyen pour diagnostiquer la maladie de Charcot-Marie-Tooth et comprendre la variabilité génétique
Delague V
CMTmag, 2016, 105, p 10
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