Malignant Hyperthermia and Central Core Disease
نویسندگان
چکیده
منابع مشابه
Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.
Malignant hyperthermia (MH) is an autosomal dominant disorder presenting under general anaesthesia. It is occasionally associated with a myopathy, central core disease (CCD), named after its predominant histochemical characteristic. The penetration of CCD is variable, but typically affected individuals show delayed motor milestones in infancy and remain physically compromised. It was thought un...
متن کاملCore myopathies and risk of malignant hyperthermia.
In this article, we analyze myopathies with cores, for which an association to malignant hyperthermia (MH) has been suggested. We discuss the clinical features, the underlying genetic defects, subsequent effects on cellular calcium metabolism, and in vitro muscle responses to MH triggers. We describe in detail central core disease, multiminicore disease, and nemaline rod myopathy. We categorize...
متن کاملMalignant Hyperthermia
''Malignant Hypothermia'' syndrome is a rare, but dangerous occurrence, the aetiology of which is not known. Up to this date 180 cases have been reported. This syndrome i's seen generally in :male children over age of two years, and especially in adolescent males. Also those people with muscular abnormalities are more susciptable to this illnes'S. Anaesthetic agent such as halothane or muscular...
متن کاملFunctional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia
BACKGROUND Central core disease and malignant hyperthermia are human disorders of skeletal muscle resulting from aberrant Ca2+ handling. Most malignant hyperthermia and central core disease cases are associated with amino acid changes in the type 1 ryanodine receptor (RyR1), the skeletal muscle Ca2+-release channel. Malignant hyperthermia exhibits a gain-of-function phenotype, and central core ...
متن کاملCore myopathies and malignant hyperthermia susceptibility: a review.
The core myopathies are a subset of myopathies that present in infancy with hypotonia and muscle weakness. They were formerly considered a rare type of congenital myopathy but are now recognized as being more prevalent. Due to their genetic linkage to mutations in the ryanodine receptor gene (RYR1), core myopathies (in particular, central core disease) carry a high risk of malignant hyperthermi...
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ژورنال
عنوان ژورنال: THE JOURNAL OF JAPAN SOCIETY FOR CLINICAL ANESTHESIA
سال: 2006
ISSN: 0285-4945,1349-9149
DOI: 10.2199/jjsca.26.215