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

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip girdle; orthopaedic complications are common and malignant hyperthermia susceptibility (MHS) is a frequent complication. CCD and MHS are allelic conditions both due to (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes of the RyR protein are considered the main pathogenetic mechanism(s). The diagnosis of CCD is based on the presence of suggestive clinical features and central cores on muscle biopsy; muscle MRI may show a characteristic pattern of selective muscle involvement and aid the diagnosis in cases with equivocal histopathological findings. Mutational analysis of the RYR1 gene may provide genetic confirmation of the diagnosis. Management is mainly supportive and has to anticipate susceptibility to potentially life-threatening reactions to general anaesthesia. Further evaluation of the underlying molecular mechanisms may provide the basis for future rational pharmacological treatment. In the majority of patients, weakness is static or only slowly progressive, with a favourable long-term outcome.
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PMID:Central core disease. 1750 18

Merosin-deficient congenital muscular dystrophy (MD-CMD) is the most common and severe form of congenital muscular dystrophy and is characterized by progressive severe hypotonia due to the absence of the merosin chain around muscle fibers. The main anesthetic concerns include a possible association with malignant hyperthermia, the risk of anesthesia-induced rhabdomyolysis, a difficult airway and postoperative respiratory failure. We report the case of an uneventful general anesthesia (GA) in a two-year-old boy with MD-CMD for the placement of an implantable venous access system. The goal of our anesthetic management was to reduce the risk of respiratory depression. We considered the possibility of loss of spontaneous ventilation against the known, but rare, risk of rhabdomyolysis and we choose for a balanced GA with sevoflurane, short acting opioids and a pressure support ventilation mode instead of a trigger-free anesthesia. Our anesthetic management and the perioperative concerns for this particular syndrome are described.
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PMID:Pressure-support ventilation in a child with merosin-deficient congenital muscular dystrophy under sevoflurane anesthesia. 2987 69