Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two 2-year-old males underwent muscle biopsy that established the histopathologic diagnosis of Becker dystrophy in one, and Duchenne dystrophy in the other. Concomitant contracture testing with caffeine or halothane was normal for malignant hyperthermia (MH). The results suggest that acute hypermetabolism or acute rhabdomyolysis during anesthesia, in patients with these disorders, is related to the X-linked myopathy and its associated muscle deterioration, rather than to the autosomal dominant MH.
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PMID:Absence of malignant hyperthermia contractures in Becker-Duchenne dystrophy at age 2. 173 62

To evaluate malignant hyperthermia (MH) susceptibility in X-linked muscular dystrophies, halothane and caffeine contracture tests were performed on muscle fiber bundles from five patients with Duchenne muscular dystrophy (DMD) and two patients with Becker muscular dystrophy (BMD). Two DMD patients and one BMD patient had positive contracture tests. Since a positive contracture test is currently the best indicator of anesthetic susceptibility in the MH population, and episodes of MH in dystrophic patients have been reported, patients with DMD and BMD may be at risk for developing similar anesthetic complications. Awareness of this potential anesthetic risk is of importance because orthopedic interventions are increasingly more common in these patients.
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PMID:Malignant hyperthermia susceptibility in X-linked muscle dystrophies. 350 9

The microtubule-associated protein tau is a major cytoskeletal protein involved in the neurofibrillary tangles of Alzheimer's disease. Although tau is predominantly a neuronal protein, it has been demonstrated in glia and other nonneuronal cells. We describe the presence of microtubule-associated protein tau epitopes in various muscle fiber lesions in oculopharyngeal and Becker muscular dystrophy, dermatomyositis, central core disease, neurogenic atrophy, and in the recovery phase of an attack of malignant hyperthermia. Western blot demonstrated a 100- to 110-kd tau-immunoreactive protein probably corresponding to 'big tau' as described in peripheral nerves. Tau immunoreactivity in muscle fiber lesions usually co-localized with tubulin, although electron microscopy failed to show an increase in microtubules. Tau and tubulin reactivity also correlated with the presence of desmin and vimentin epitopes. Possible explanations for the presence of tau are briefly discussed.
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PMID:Microtubule-associated protein tau epitopes are present in fiber lesions in diverse muscle disorders. 751 93

We present a 17-year-old boy with Becker muscular dystrophy (BMD) who developed hyperthermia and heart failure after general anesthesia. He presented clinical features of malignant hyperthermia (MH), and had masseter spasm and elevated body temperature (38.7 degrees C) with very high serum CK activity (107,000 IUl-1). Dystrophin tests confirmed a clinical diagnosis of BMD in the patient, i.e. faint and patchy immunostaining pattern of skeletal muscle, truncated dystrophin protein and a deletion of exons 3 and 4 of the dystrophin gene. To inquire into the mechanism of MH associated in the patient, we tested caffeine contracture reaction by the skinned fiber method. We found an increased sensitivity to caffeine only in type 1 muscle fibers. The rate of Ca(2+)-induced Ca2+ release (CICR) was normal, suggesting that the mechanism of "MH" observed in our patient with BMD is not the same as that of classical MH. A possible mechanism might be related to derangements of the sarcoplasmic reticulum membrane in BMD, which sensitize the membrane to caffeine or other agents.
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PMID:Malignant hyperthermia in a patient with Becker muscular dystrophy: dystrophin analysis and caffeine contracture study. 771 42

Rhabdomyolysis occurred in two apparently healthy boys aged 9.5 and 5.5 years after general anesthesia with suxamethonium. Mild hyperkalemia and renal failure were observed in the first patient, who was subsequently diagnosed with Becker dystrophy. In the second patient, the clinical presentation was not classic for malignant hyperthermia and a muscle biopsy failed to disclose any pathological finding. A review of the literature revealed 66 pediatric cases (56 boys and 10 girls) of anesthesia-associated rhabdomyolysis. Forty-nine (74%) cases were caused by an underlying, mostly unrecognized congenital muscle disease, and 14 (21%) cases were caused by malignant hyperthermia susceptibility. Hyperkalemia (23 patients), cardiac arrhythmias (38 patients), renal failure (4 patients), and death (11 patients) were the most serious complications of anesthesia-associated rhabdomyolysis. The neuromuscular blocking agent suxamethonium had been used in at least 43 of the patients reported in the literature.
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PMID:Rhabdomyolysis and anesthesia: a report of two cases and review of the literature. 891 67

The expression of thrombomodulin and neural cell adhesion molecule (NCAM) was studied immunocytochemically in biopsied muscle specimens from 10 patients with rhabdomyolysis with different etiologic factors, including 5 with malignant hyperthermia. We have already reported that thrombomodulin was expressed on regenerating muscle cell membranes as well as on vessel walls in patients with various neuromuscular diseases, including Duchenne muscular dystrophy, Becker muscular dystrophy and inflammatory myopathy. We found increased expression of thrombomodulin not only on the sarcolemma, but also in the sarcoplasm of a fair number of muscle fibers in the acute phase of rhabdomyolysis. The granular pattern of thrombomodulin expression in the sarcoplasm seems to be a characteristic finding in the acute phase of rhabdomyolysis. Most muscle fibers which expressed NCAM on the sarcolemma also expressed thrombomodulin. However, the muscle fibers which expressed thrombomodulin in the sarcoplasm did not express NCAM, and showed a degenerative appearance on electron microscopic examination. These results suggest that thrombomodulin is expressed in the sarcoplasm during the acute degeneration phase of rhabdomyolysis in addition to the expression on the sarcolemma during the muscle fiber regeneration as shown in our previous study, and the former process, which is characterized by the granular expression of thrombomodulin in the sarcoplasm, may be a characteristic finding in rhabdomyolysis.
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PMID:Characteristic expression of thrombomodulin in the muscle sarcoplasm in patients with the acute phase of rhabdomyolysis. 1076 59

Episodes of acute myoglobinuria or cardiac arrest were occasionally complicated in general anesthesia of patients with Duchenne or Becker muscular dystrophy (DMD/BMD). Whether these complications are malignant hyperthermia (MH) or not has several times been discussed. In the present study, we applied the clinical grading scale (CGS) of Larach and modified criteria of caffeine contracture test of the skinned fiber (sIVCT) to solve this problem. When the CGS was applied to reported MH-like episodes of DMD/BMD cases, 9 out of 20 cases were classed as almost certain or very likely MH. According to results of sIVCT in 11 patients with DMD/BMD, 5 patients were judged as MHS (MH-susceptible) and 3 as MHE (MH-equivocal). The diagnostic specificity of present MHS criteria was 100% for the fulminant MH. A possible "false positive" result in European IVCT has been discussed in relation to myopathy such as muscular dystrophy. When we applied our sIVCT to the muscle of mdx mouse, caffeine contracture was rather reduced compared to controls. Present study suggested that a true MH was complicated in some cases of DMD/BMD. In certain stage of muscular degeneration, patients with DMD/BMD become susceptible to MH, probably temporarily, but exact mechanism still awaits clarification.
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PMID:[Malignant hyperthermia of Duchenne muscular dystrophy: application of clinical grading scale and caffeine contracture of skinned muscle fibers]. 1100 22

Progressive muscular dystrophy may produce abnormal reactions to several drugs. There is no consensus of opinion regarding the continuous infusion of propofol in patients with progressive muscular dystrophy. We successfully treated 2 patients with progressive muscular dystrophy who were anesthetized with a continuous infusion of propofol. In case 1, a 19-year-old, 59-kg man with Becker muscular dystrophy and mental retardation was scheduled for dental treatment under general anesthesia. General anesthesia was maintained by a continuous infusion of 6-10 mg/kg propofol per hour and an inhalational mixture of 67% nitrous oxide and 33% oxygen. No complications were observed during or after the operation. In case 2, a 5-year-old, 11-kg boy with Fukuyama type congenital muscular dystrophy and slight mental retardation was scheduled for dental treatment under general anesthesia. General anesthesia was maintained with a continuous infusion of 6-12 mg/kg propofol per hour and an inhalational mixture of 0.5-1.5% sevoflurane in 67% nitrous oxide and 33% oxygen. No complications were observed during or after the operation. It is speculated that a continuous infusion of propofol in progressive muscular dystrophy does not cause malignant hyperthermia because serum levels of creatine phosphokinase and myoglobin decreased after our anesthetic management. Furthermore, our observations suggest that sevoflurane may have some advantages in patients with progressive type muscular dystrophies other than Duchenne muscular dystrophy and Becker muscular dystrophy. In conclusion, our cases suggest that a continuous infusion of propofol for the patients with progressive muscular dystrophy is a safe component of our anesthetic strategy.
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PMID:Continuous infusion propofol general anesthesia for dental treatment in patients with progressive muscular dystrophy. 1585 43

Patients with Duchenne and Becker muscular dystrophy suffer from a progressive deterioration in muscle secondary to a defect in the dystrophin gene. As such, they are susceptible to perioperative respiratory, cardiac and other complications, such as rhabdomyolysis. Inhalational anesthetic agents have been implicated as a cause of acute rhabdomyolysis that can resemble malignant hyperthermia (MH). This article reviews perioperative 'MH-like' reactions reported in muscular dystrophy patients and groups them into three categories according to clinical presentation. The etiology and underlying pathophysiological process responsible for these reactions is discussed and recommendations are proposed for the safe anesthetic management of these patients.
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PMID:Duchenne muscular dystrophy: an old anesthesia problem revisited. 1881 53

Adverse reactions to genral anesthesia, which partly resembled malignant hyperthermia (MH), were more frequent in muscular dystrophy than in controls. In the present study, 35 cases so far reported in Duchenne or Becker muscular dystrophy (DMD or BMD) were analyzed and their pathogenesis was discussed. Cardiac involvements were sole manifestations in 7 cases. In other 28 cases, the acute rhabdomyolysis was the most prevailing manifestation. About 60% of myolysis cases were associated with muscle contracture (rigidity) or other hypermetabolic signs such as hypercapnia, hyperthermia and metabolic acidosis. Cases with BMD were more hyperthermic than with DMD. These results suggest Ca ion-induced hypermetabolic reactions are also present in dystrophinopathy, which have been assumed as core syndromes of the classical (gene-defined) MH. However, question whether the abnormal Ca ion is from the extracellular or intracellular stores is still unclear. Circumstancial evidences suggest that the Ca-induced Ca release (CICR) mechanism might also be involved. Endogenous redox modulators such as nitric oxide or reactive oxygen species in the dystrophic muscle might contribute to the perturbed Ca ion homeostasis.
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PMID:[Malignant hyperthermia-like reactions in Duchenne or Becker muscular dystrophy: review and hypothesis]. 1832 2


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