New classification and treatment for myotonic disorders

Internal Medicine

Volumn 44, Issue 10, 2005, Pages 1027-1032

  Kurihara, Teruyuki ^a,b  

^a TOHO UNIVERSITY OHASHI MEDICAL CENTER   (Japan)

^b NONE   (Japan)

Author keywords

Adynamia episodica hereditaria; Autosomal recessive generalized myotonia (Becker type); Myotonia fluctuans; Myotonic dystrophy type 1 (DM1); Paramyotonia congenita; Thomsen's disease

Indexed keywords

CARBAMAZEPINE; CHLORIDE CHANNEL; COMPLEMENTARY RNA; CREATINE; DOXORUBICIN; MESSENGER RNA; MESYLIC ACID ETHYL ESTER; METFORMIN; MEXILETINE; MITOMYCIN C; MITOXANTRONE; MODAFINIL; MYOTONIC DYSTROPHY PROTEIN KINASE; PHENYTOIN; PLACEBO; PRASTERONE SULFATE; PROCAINAMIDE; RETROVIRUS VECTOR; SODIUM CHANNEL BLOCKING AGENT;

ARTIFICIAL HEART PACEMAKER; CAPSULORHEXIS; CARDIOVASCULAR DISEASE; CATARACT EXTRACTION; CLINICAL FEATURE; CLINICAL TRIAL; COLD CLIMATE; COLON RESECTION; CONSTIPATION; DIABETES MELLITUS; DIARRHEA; DISEASE CLASSIFICATION; DISEASE CONTROL; DRUG EFFICACY; ELECTROCARDIOGRAM; GENE THERAPY; HEART ARRHYTHMIA; HOLTER MONITORING; HUMAN; IN VITRO STUDY; JAPAN; LARYNGEAL MASK; LYMPHOBLAST; MUSCLE ACTION POTENTIAL; MUSCLE WEAKNESS; MYOTONIA; MYOTONIC DYSTROPHY; NUCLEOTIDE REPEAT; PERIODIC PARALYSIS; POSTOPERATIVE COMPLICATION; PTOSIS; RECTUM BIOPSY; RESPIRATORY TRACT DISEASE; REVIEW; RISK ASSESSMENT; SOMNOLENCE; SPINOCEREBELLAR DEGENERATION; STOMACH CANCER; SUDDEN DEATH; SWEAT GLAND DISEASE; THOMSEN DISEASE; VIRAL GENE DELIVERY SYSTEM;

HUMANS; MYOTONIC DISORDERS;

EID: 28344432344     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.44.1027     Document Type: Review

References (31)

1. Landau WM. The essential mechanism in myotonia. An electromyographic study. Neurology 2: 369-388, 1952.
2. Kurihara T. The mechanism of myotonia: Electrophysiological study of induced myotonia using anthracene-9-carboxylic acid. Rihsho Shinkeigaku 18: 332-338, 1978 (in Japanese).
3. Kurihara T, Brooks JE. Excitation-contraction uncoupling: The effect of hyperosmolar glycerol solution and dantrolene sodium on mammalian muscle in vitro. Arch Neurol 32: 92-91, 1975.
4. Kurihara T, Brooks JE. The mechanism of neruromuscular fatigue. A study of mammalian muscle using excitation-contraction uncoupling. Arch Neurol 32: 168-174, 1975.
5. Lipicky RJ, Bryant SH, Salmon JH. Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostals muscle of normal volunteers and patients with myotonia congenita. J Clin Invest 50: 2091-2103, 1971.
6. Lehmann-Horn F, Rüdel R, Ricker K. Membrane defects in paramyotonia congenital (Eulenburg). Muscle Nerve 10: 633-641, 1987.
7. Ebers GC, George AL, Barchi RL, et al. Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. Ann Neurol 30: 810-816, 1991.
8. Ptacek LJ, Gouw L, Kwiecinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 33: 300-307, 1993.
9. Fontaine B, Khurana TS, Hoffman EP, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel α-subunit gene. Science 250: 1000-1002, 1990.
10. + channel α-subunit in hyperkalemic periodic paralysis. Nature 354: 387-389, 1991.
11. Rüdel R, Ricker K, Lehmann-Horn F. Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol 50: 1241-1248, 1993.
12. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68: 799-808, 1992.
13. Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44: 1448-1452, 1994.
14. Schneider C, Ziegler A, Ricker K, et al. Proximal myotonic myopathy. Evidence for anticipation in families with linkage to chromosome 3q. Neurology 55: 383-388, 2000.
15. Finsterer J. Myotonic dystrophy type 2. Eur J Neurol 9: 441-447, 2002.
16. Mankodi A, Takahashi MP, Jiang H, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10: 35-44, 2002.
17. Harper PS. Myotonic disorders. in: Myology. First ed. Engel AG, Banker BQ, Eds. McGraw-Hill, New York, 1986: 1267-1311.
18. Ricker K, Moxley RT 3rd, Heine R, et al. Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol 51: 1095-1102, 1994.
19. Sugino M, Ohsawa N, Ito T, et al. A pilot study of dehydroepiandroserone sulfate in myotonic dystrophy. Neurology 51: 586-589, 1998.
20. Tarnopolsky M, Mahoney D, Thompson T, et al. Creatine monohydrate supplementation does not increase muscle strength, lean body mass, or muscle phosphocreatine in patients with myotonic dystrophy type 1. Muscle Nerve 29: 51-58, 2004.
21. Schneider-Gold C, Beck M, Wessig C, et al. Creatine monohydrate in DM2/PROMM: a double-blind placebo-controlled clinical study. Proximal myotonic myopathy. Neurology 60: 500-502, 2003.
22. Matsumura T, Yokoe M, Nakamori M, et al. A clinical trial of creatine monohydrate in muscular dystorophy patients. Rinsho Shinkeigaku 44: 661-666, 2004 (in Japanese).
23. Bensoussan L, De Saint Jean M, Lozato P, et al. Severe bilateral capsulorhexis contraction after cataract surgery in myotonic dystrophy: a case report. J Fr Ophthalmol 27: 479-483, 2004.
24. Burnstine MA, Putterman AM. Management of myopathic ptosis. Ophthalmology 111: 411, 2004.
25. Lazarus A, Varin J, Babuty D, et al. Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing. A multicenter diagnostic pacemaker study. J Am Coll Cardiol 40: 1645-1652, 2002.
26. Kouki T, Takasu N, Nakachi A, et al. Low-dose metformin improves hyperglycemia related myotonic dystrophy. Diabet Med 22: 346-347, 2004.
27. MacDonald JR, Hill JD, Tarnopolsky MA. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology 59: 1876-1880, 2002.
28. Casasa JM, Isnard RM, Ojanguren I, et al. Intestinal myopathy in Steinert's disease. Cir Pediatr 16: 149-151, 2003.
29. Suzuki H, Aoyagi M. Anesthetic management with a laryngeal mask airway for gastrectomy in a patient with myotonic dystrophy. Masui 52: 993-995, 2003 (in Japanese).
30. Furling D, Doucet G, Langlois MA, et al. Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions. Gene Ther 10: 795-802, 2003.
31. Hashem VI, Pytlos MJ, Klysik EA, et al. Chemotherapeutic deletion of CTG repeats in lymphoblast cells from DM1 patients. Nucleic Acids Res 32: 6334-6346, 2004.