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Central core disease and malignant hyperthermia syndrome
Author(s) -
Frank John P.,
Harati Yadollah,
Butler Ian J.,
Nelson Thomas E.,
Scott Charles I.
Publication year - 1980
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410070105
Subject(s) - central core disease , malignant hyperthermia , proband , medicine , muscle contracture , disease , contracture , hyperthermia , sibling , pathology , surgery , psychology , biology , biochemistry , ryanodine receptor , mutation , gene , calcium , ryr1 , developmental psychology
In a detailed investigation of a family with musculoskeletal abnormalities obsesrved in four generations, the probad and his mother were found to have central cores and multicores on histochemical and electron microscopic studies of biopsied muscle. A male sibling experienced a malignant hyperthermic reaction during hand surgery, and although similar reactions had not been observed in other family members, unexplained ventricular dysrhythmias did occur in the proband during surgery. The proband and his mother were subsequently shown to be susceptible to malignant hyperthermia by abnormal in vitro muscle contractures in the presence of halothane or caffeine. Physicians and dentists caring for patients with central core disease should be aware of its possible association with malignant hyperthermia. Complete evaluation pf patients with central core disease should include in vitro muscle contracture studies for malignant hyperthermia since many of these patients require surgery for musculo‐skeletal defects.