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)

A 53-year-old woman was scheduled for elective surgery of a L4-L5 lumbar disc prolapse. Preoperatively, she reported of a hereditary muscle disease in her family which could be identified as familial hyperkalaemic periodic paralysis. In patients with familial periodic paralysis, only limited information is available in the current anaesthesiological literature. This is especially true of the hyperkalaemic form which was separated from the hypokalaemic form in 1957. Most patients suffering from periodic paralysis will develop myotonic symptoms in time, but evidence is lacking that the incidence of malignant hyperthermia (MH) is higher than in normals. However, abnormalities of the electrocardiogram (ECG) due to changes in the potassium serum levels are not unusual, and the anaesthesiologist must be aware of cardiac arrhythmias. In the present case, the patient was anaesthetized using fentanyl, midazolam, and vecuronium, and ventilated with 66% nitrous oxide in oxygen. Radial artery blood pressure, end-tidal CO2, and nasopharyngeal temperature were monitored continuously. Surgery was completed after 2 hours with no abnormalities in the intraoperative course. Recovery from anaesthesia was uneventful. During the postoperative follow-up for 1 week, further attacks of paralysis, intermittent sodium-potassium imbalance of the muscle cell membrane appears to be the primary pathogenetic factor. In this special disease, prevention of carbohydrate depletion and the avoidance of muscle relaxants are recommended in the anaesthesiological literature. However, a specified regimen of general anaesthesia has not yet been outlined. In our special case, the use of anaesthetics deemed to be safe in MH susceptible patients produced an uneventful perioperative course.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Anesthesia in familial hyperkalemic periodic paralysis]. 832 4

THE ROLE OF IONIC CHANNEL DYSFUNCTION: During various neurological diseases has been evoked for many years on electro-physiological data. Molecular biology has led to great progress in neurology, and can be considered "functional" since it is surpasses the classical anatomo-clinical methods. IONIC CHANNEL DYSFUNCTION: Can be determined genetically, resulting from the mutation of a gene code of a channel sub-unit. CHANNELOPATHIES ARE RESPONSIBLE: For muscular diseases (myotonia, familial periodic paralysis, malignant hyperthermia and congenital myasthenia), but also for central nervous system disorders such as familial hemiplegic migraine, hereditary paroxystic ataxia and certain forms of Mendel's law hereditary epilepsy. ACQUIRED IONIC CHANNEL DYSFUNCTION: Resulting from auto-immune aggression is implied in diseases such as Lambert-Eaton's myasthenic syndrome and Isaac's neuromyotonia syndrome. It probably plays a part in the clinical, and particularly the sensitive expression (paresthesia and pain) of some peripheral neuropathies and certain central nervous system affections, such as multiple sclerosis.
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PMID:[Ion channel abnormalities ("channelopathies") in neurologic diseases]. 1188 65