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Malignant hyperthermia in myotonia congenita.
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We report a family in which two sisters with myotonia congenita (MyC) were referred for malignant hyperthermia (MH) evaluation after each developed muscle rigidity with anesthesia. Halothane contracture testing of skeletal muscle in both was consistent with MH susceptibility. A third sister without
The myotonias and susceptibility to malignant hyperthermia.
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Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle in which volatile anesthetics trigger a sustained increase in intramyoplasmic Ca(2+) via release from sarcoplasmic reticulum and, possibly, entry from the extracellular milieu that leads to hypermetabolism, muscle rigidity,
In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita.
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BACKGROUND
A common form of congenital myotonia, myotonia congenita (MC), is caused by mutations in the skeletal muscle Cl(-) channel gene type 1 (CLCN1). Due to the reduced Cl(-) conductance of the mutated channels, the patients may develop generalized muscle rigidity and hypermetabolism during
Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?
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Excised muscles from patients with myotonia or periodic paralysis were subjected to the in vitro contracture test for susceptibility to malignant hyperthermia (MH). In a group of 44 patients, this standard test gave four positive, 10 equivocal and 30 negative results. The results for 27 control
[Malignant hyperthermia or myotonia congenita].
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Myotonias and masseter spasm: not malignant hyperthermia?
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Malignant hyperthermia and myotonia congenita (Thomsen's disease)
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Colchicine-induced myoneuropathy with myotonia in a patient with familial Mediterranean fever.
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[Anesthesia in myotonia].
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Myotonia is defined as a persistent contraction of skeletal muscles after their stimulation. This contracture is not prevented or relieved by regional anaesthesia or muscle relaxants. The sensitivity to non-depolarizing muscle relaxants is usually normal. Suxamethonium, neostigmine, hypothermia, a
[Incidence of disposition for malignant hyperthermia in patients with neuromuscular diseases].
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OBJECTIVE
It has been suggested that malignant hyperthermia (MH) occurs more frequent in patients with neuromuscular diseases (NMD) than in patients without NMD when they are exposed to volatile anaesthetics and/or succinylcholine. However, whereas central core disease (CCD) and MH susceptibility
Failure to induce malignant hyperthermia in myotonic goats.
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Six goats with myotonia congenita were exposed for 1 h to 1% halothane and a single injection of suxamethonium i.v. in an attempt to induce malignant hyperthermia. No evidence of malignant hyperthermia occurred. Suxamethonium did produce a myotonic response in each goat, lasting 10-20s, which was
[Malignant hyperthermia. The ugly].
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The term "malignant hyperthermia" (MH), regarded as the typical anaesthetic disease, refers to a clinical syndrome of varying intensity (from abortive courses to fulminant crises) and develops only under exposure of certain triggering substances or mechanisms. MH is caused by a defect in the
Malignant hyperthermia and neuromuscular disease.
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Malignant hyperthermia (MH) is a rare clinical syndrome characterized by hypermetabolism and triggered by specific anesthetic agents. The mechanism of this abnormal reaction is due to uncontrolled calcium flux in the skeletal muscles resulting in a variable clinical syndrome of muscle rigidity,
Multidisciplinary approach to the treatment of a patient with chondrodystrophic myotonia (Schwartz-Jampel vel Aberfeld syndrome): case report and literature review.
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Chondrodystrophic myotonia, Schwartz-Jampel syndrome, is a rare congenital disorder, which results from disturbance in a perlecan protein synthesis. Most affected are the muscles, acting in generalized myotonia, leading to joint contractures, weird-looking mask-like face appearance, and causing
Schwartz-Jampel syndrome is not related to malignant hyperthermia.
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Schwartz-Jampel syndrome (SJS) is a rare syndrome that is clinically characterized by myotonia and skeletal abnormalities. Most reports regarding SJS have stated that patients with SJS are susceptible to malignant hyperthermia (MH). The statement is incorrect. There is no report showing that SJS is
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