Semin Neurol 2008; 28(2): 260-269
DOI: 10.1055/s-2008-1062262
© Thieme Medical Publishers

Muscle Channelopathies

David S. Saperstein1
  • 1Phoenix Neurological Associates; Department of Neurology, University of Arizona College of Medicine, Phoenix, Arizona
Further Information

Publication History

Publication Date:
19 March 2008 (online)

ABSTRACT

In recent years the term channelopathy has been adopted to describe neurological disorders caused by mutations in different ion channel genes. Myopathic channelopathies include two main groups: nondystrophic myotonias and periodic paralyses. This article reviews the clinical features, diagnostic approach, molecular causes, and management of patients with nondystrophic myotonias and periodic paralyses.

REFERENCES

  • 1 Streib E W. AAEE minimonograph #27: differential diagnosis of myotonic syndromes.  Muscle Nerve. 1987;  10 603-615
  • 2 Heatwole C R, Moxley III R T. The nondystrophic myotonias.  Neurotherapeutics. 2007;  4 238-251
  • 3 Wagner S, Deymeer F, Kurz L L et al.. The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology.  Muscle Nerve. 1998;  21 1122-1128
  • 4 George A L, Crackower M A, Abdalla J A, Hudson J A, Ebers G C. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenital).  Nat Genet. 1993;  3 305-310
  • 5 Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch M C, Jentsch T J. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.  Hum Mol Genet. 1994;  3 941-946
  • 6 Wu F F, Ryan A, Devaney J et al.. Novel CLCN1 mutations with unique clinical and electrophysiological consequences.  Brain. 2002;  125 2392-2407
  • 7 Ptacek L J, George A L, Barchi R L et al.. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.  Neuron. 1992;  8 891-897
  • 8 Ptacek L J, Gouw L, Kwiencinski H et al.. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.  Ann Neurol. 1993;  33 300-307
  • 9 Streib E W. Paramyotonia congenita: successful treatment with tocainide: clinical and electrophysiologic findings in seven patients.  Muscle Nerve. 1987;  10 155-162
  • 10 Fournier E, Arzel M, Sternberg D et al.. Electromyography guides toward subgroups of mutations in muscle channelopathies.  Ann Neurol. 2004;  56 650-661
  • 11 Fournier E, Viala K, Gervais H et al.. Cold extends electromyography distinction between ion channel mutations causing myotonia.  Ann Neurol. 2006;  60 356-365
  • 12 McManis P G, Lambert E H, Daube J R. The exercise test in periodic paralysis.  Muscle Nerve. 1986;  9 704-710
  • 13 Kuntzer T, Flocard F, Vial C et al.. Exercise test in muscle channelopathies and other muscle disorders.  Muscle Nerve. 2000;  23 1089-1094
  • 14 Jackson C E, Barohn R J, Ptacek L J. Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy.  Muscle Nerve. 1994;  17 763-768
  • 15 Russell S H, Hirsch N P. Anaesthesia and myotonia.  Br J Anaesth. 1994;  72 210-216
  • 16 Lennox G, Purves A, Marsden D. Myotonia fluctuans.  Arch Neurol. 1992;  49 1010-1011
  • 17 Rudel R, Lehmann-Horn F. Workshop report. Paramyotonia, potassium-aggravated myotonias, and periodic paralyses.  Neuromuscul Disord. 1997;  7 127-132
  • 18 Trudell R G, Kaiser K K, Griggs R C. Acetazolamide responsive myotonia congenita.  Neurology. 1987;  37 488-491
  • 19 Griggs R C. Periodic paralysis and myotonia. In: Griggs RC, Mendell JR, Miller RG Evaluation and Treatment of Myopathies. Philadelphia; FA Davis 1995: 318-354
  • 20 Tawil R, Ptacek L J, Pavlakis S G et al.. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.  Ann Neurol. 1994;  35 326-330
  • 21 Miller T M, Dias da Silva M R, Miller H A et al.. Correlating phenotype and genotype in the periodic paralyses.  Neurology. 2004;  63 1647-1655
  • 22 Sansone V, Griggs R C, Meola G et al.. Andersen's syndrome: a distinct periodic paralysis.  Ann Neurol. 1997;  42 305-312
  • 23 Ptacek L J, George Jr A L, Griggs R C et al.. Identification of a mutation in the gene causing hyperkalemic periodic paralysis.  Cell. 1991;  67 1021-1027
  • 24 Sternberg D, Maisonobe T, Jurkat-Rott K et al.. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.  Brain. 2001;  124 1091-1099
  • 25 Plaster N M, Tawil R, Tristani-Firouzi M et al.. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.  Cell. 2001;  105 511-519
  • 26 Katz J S, Wolfe G I, Iannaccone S, Bryan W W, Barohn R J. The exercise test in Andersen syndrome.  Arch Neurol. 1999;  56 352-356
  • 27 Tawil R, McDermott M P, Brown Jr R et al.. Randomized trials of dichlorphenamide in the periodic paralyses.  Working Group on Periodic Paralysis . Ann Neurol. 2000;  47 46-53
  • 28 Chun T U, Epstein M R, Dick II M et al.. Polymorphic ventricular tachycardia and KCNJ2 mutations.  Heart Rhythm. 2004;  1 235-241

David S SapersteinM.D. 

Phoenix Neurological Associates

1331 North 7th Street, Suite 350, Phoenix, AZ 85006

Email: david.saperstein@gmail.com

    >