Masseter muscle rigidity associated with glycine1306 -to-alanine mutation in the adult muscle sodium channel α-subunit gene

G. M. Vita, A. Olckers, A. E. Jedlicka, A. L. George, T. Heiman-Patterson, H. Rosenberg, J. E. Fletcher, Roy C Levitt

Research output: Contribution to journalArticle

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Abstract

Background: Succinylcholine-induced masseter muscle rigidity (MMR) is a potentially life-threatening complication of anesthesia and is closely correlated with the heterogeneous disorder malignant hyperthermia (MH) susceptibility. MMR also is identified with a variety of neuromuscular disorders, including the myotonias, that are associated with abnormal in vitro contracture test (IVCT) results. Recently, mutations in the adult skeletal muscle sodium channel α-subunit gene (SCN4A) have been shown to cause generalized nondystrophic myotonias, some of which are associated with mild nonspecific symptoms. The purpose of the current investigation was to begin to evaluate the molecular genetic relationship between known mutations in the SCN4A gene, MMR, and the results of the IVCT used to diagnose MH- susceptibility. Method: A single extended pedigree of 16 individuals was ascertained through a proband who experienced MMR and whole-body rigidity after succinylcholine administration. Subsequently, four individuals were shown to have a mild form of myotonia on clinical and laboratory examination. IVCT was carried out according to standardized protocols. Mutations in the SCN4A gene were sought in exons 22 and 24 using single-strand conformational analyses. Variability in the SCN4A gene sequence was confirmed by direct DNA sequence analyses. Results: Four individuals with myotonia were shown to carry a guanine-to-cytosine mutation at nucleotide position 3917 of the reported SCN4A sequence. This DNA mutation was coinherited with MMR and an abnormal IVCT result in this family. Previous studies have demonstrated that the glycine1306-to-alanine substitution is associated with a mild clinical syndrome referred to as myotonia fluctuans. Conclusions: The current report provides direct evidence that succinylcholine-induced MMR, whole-body rigidity, and all abnormal IVCT result are associated with a mutation in the SCN4A gene.

Original languageEnglish
Pages (from-to)1097-1103
Number of pages7
JournalAnesthesiology
Volume82
Issue number5
StatePublished - May 19 1995
Externally publishedYes

Fingerprint

Muscle Rigidity
Masseter Muscle
Sodium Channels
Alanine
Contracture
Muscles
Mutation
Succinylcholine
Myotonia
Genes
Malignant Hyperthermia
Myotonic Disorders
Cytosine
Guanine
Pedigree
DNA Sequence Analysis
Molecular Biology
Exons
Skeletal Muscle
Anesthesia

Keywords

  • Malignant hyperthermia: in vitro contraction test; masseter rigidity
  • Molecular biology: genetic heterogeneity; mutations; sodium channel

ASJC Scopus subject areas

  • Anesthesiology and Pain Medicine

Cite this

Vita, G. M., Olckers, A., Jedlicka, A. E., George, A. L., Heiman-Patterson, T., Rosenberg, H., ... Levitt, R. C. (1995). Masseter muscle rigidity associated with glycine1306 -to-alanine mutation in the adult muscle sodium channel α-subunit gene. Anesthesiology, 82(5), 1097-1103.

Masseter muscle rigidity associated with glycine1306 -to-alanine mutation in the adult muscle sodium channel α-subunit gene. / Vita, G. M.; Olckers, A.; Jedlicka, A. E.; George, A. L.; Heiman-Patterson, T.; Rosenberg, H.; Fletcher, J. E.; Levitt, Roy C.

In: Anesthesiology, Vol. 82, No. 5, 19.05.1995, p. 1097-1103.

Research output: Contribution to journalArticle

Vita, GM, Olckers, A, Jedlicka, AE, George, AL, Heiman-Patterson, T, Rosenberg, H, Fletcher, JE & Levitt, RC 1995, 'Masseter muscle rigidity associated with glycine1306 -to-alanine mutation in the adult muscle sodium channel α-subunit gene', Anesthesiology, vol. 82, no. 5, pp. 1097-1103.
Vita GM, Olckers A, Jedlicka AE, George AL, Heiman-Patterson T, Rosenberg H et al. Masseter muscle rigidity associated with glycine1306 -to-alanine mutation in the adult muscle sodium channel α-subunit gene. Anesthesiology. 1995 May 19;82(5):1097-1103.
Vita, G. M. ; Olckers, A. ; Jedlicka, A. E. ; George, A. L. ; Heiman-Patterson, T. ; Rosenberg, H. ; Fletcher, J. E. ; Levitt, Roy C. / Masseter muscle rigidity associated with glycine1306 -to-alanine mutation in the adult muscle sodium channel α-subunit gene. In: Anesthesiology. 1995 ; Vol. 82, No. 5. pp. 1097-1103.
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abstract = "Background: Succinylcholine-induced masseter muscle rigidity (MMR) is a potentially life-threatening complication of anesthesia and is closely correlated with the heterogeneous disorder malignant hyperthermia (MH) susceptibility. MMR also is identified with a variety of neuromuscular disorders, including the myotonias, that are associated with abnormal in vitro contracture test (IVCT) results. Recently, mutations in the adult skeletal muscle sodium channel α-subunit gene (SCN4A) have been shown to cause generalized nondystrophic myotonias, some of which are associated with mild nonspecific symptoms. The purpose of the current investigation was to begin to evaluate the molecular genetic relationship between known mutations in the SCN4A gene, MMR, and the results of the IVCT used to diagnose MH- susceptibility. Method: A single extended pedigree of 16 individuals was ascertained through a proband who experienced MMR and whole-body rigidity after succinylcholine administration. Subsequently, four individuals were shown to have a mild form of myotonia on clinical and laboratory examination. IVCT was carried out according to standardized protocols. Mutations in the SCN4A gene were sought in exons 22 and 24 using single-strand conformational analyses. Variability in the SCN4A gene sequence was confirmed by direct DNA sequence analyses. Results: Four individuals with myotonia were shown to carry a guanine-to-cytosine mutation at nucleotide position 3917 of the reported SCN4A sequence. This DNA mutation was coinherited with MMR and an abnormal IVCT result in this family. Previous studies have demonstrated that the glycine1306-to-alanine substitution is associated with a mild clinical syndrome referred to as myotonia fluctuans. Conclusions: The current report provides direct evidence that succinylcholine-induced MMR, whole-body rigidity, and all abnormal IVCT result are associated with a mutation in the SCN4A gene.",
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AU - Jedlicka, A. E.

AU - George, A. L.

AU - Heiman-Patterson, T.

AU - Rosenberg, H.

AU - Fletcher, J. E.

AU - Levitt, Roy C

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N2 - Background: Succinylcholine-induced masseter muscle rigidity (MMR) is a potentially life-threatening complication of anesthesia and is closely correlated with the heterogeneous disorder malignant hyperthermia (MH) susceptibility. MMR also is identified with a variety of neuromuscular disorders, including the myotonias, that are associated with abnormal in vitro contracture test (IVCT) results. Recently, mutations in the adult skeletal muscle sodium channel α-subunit gene (SCN4A) have been shown to cause generalized nondystrophic myotonias, some of which are associated with mild nonspecific symptoms. The purpose of the current investigation was to begin to evaluate the molecular genetic relationship between known mutations in the SCN4A gene, MMR, and the results of the IVCT used to diagnose MH- susceptibility. Method: A single extended pedigree of 16 individuals was ascertained through a proband who experienced MMR and whole-body rigidity after succinylcholine administration. Subsequently, four individuals were shown to have a mild form of myotonia on clinical and laboratory examination. IVCT was carried out according to standardized protocols. Mutations in the SCN4A gene were sought in exons 22 and 24 using single-strand conformational analyses. Variability in the SCN4A gene sequence was confirmed by direct DNA sequence analyses. Results: Four individuals with myotonia were shown to carry a guanine-to-cytosine mutation at nucleotide position 3917 of the reported SCN4A sequence. This DNA mutation was coinherited with MMR and an abnormal IVCT result in this family. Previous studies have demonstrated that the glycine1306-to-alanine substitution is associated with a mild clinical syndrome referred to as myotonia fluctuans. Conclusions: The current report provides direct evidence that succinylcholine-induced MMR, whole-body rigidity, and all abnormal IVCT result are associated with a mutation in the SCN4A gene.

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