Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies

Clinical Neurology and Neurosurgery

Volumn 101, Issue 2, 1999, Pages 133-136

  Lacomis, David ^a   Gonzales, Jorge T ^a   Giuliani, Michael J ^a  

^a UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

Myotonia; Myotonia congenita; Peripheral nervous system diseases; Pregnancy

Indexed keywords

ADULT; ARTICLE; CASE REPORT; ELECTROMYOGRAM; FEMALE; HUMAN; MUSCLE WEAKNESS; MYOTONIA; MYOTONIC DYSTROPHY; PHENOTYPE; PREGNANCY; THOMSEN DISEASE;

ADULT; FEMALE; HUMANS; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MYOTONIA CONGENITA; PEDIGREE; PREGNANCY; PREGNANCY COMPLICATIONS;

EID: 0032991238     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0303-8467(99)00019-0     Document Type: Article

References (25)

1. Barchi R.L. Ion channels and disorders of excitation in skeletal muscle. Curr Opin Neurol Neurosurg. 6:1993;40-47.
2. Barchi R.L. Phenotype and genotype in the myotonic disorders. Muscle Nerve. 21:1998;1119-1121.
3. George A.I., Crackower M.A., Abdalla J.A., Hudson A.J., Ebers G.C. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet. 3:1993;305-310.
4. Koch M.C., Steinmeyer K., Lorenz C. et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 257:1992;797-800.
5. Koty P.P., Pegoraro E., Hobson G. et al. Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect. Neurology. 47:1996;963-968.
6. Ptacek L.J., Johnson K.J., Griggs R.C. Genetics and physiology of the myotonic muscle disorders. New Engl J Med. 328:1993;482-489.
7. Zhang J., George A.L., Griggs R.C., Foyad G.T., Roberts J., Kwiecinski H., Connolly A.M., Ptacek L.J. Mutations in the human skeletal muscle chloride channel gene (CLCNI) associated with dominant and recessive myotonia congenita. Neurology. 47:1996;993-998.
8. Ricker K., Lehmann-Horn F., Moxley R.T. Myotonia fluctuans. Arch Neurol. 47:1990;268-272.
9. Wagner S., Deymeer F., Kurz L.L., Benz S., Schleithoff L., Lehmann-Horn F., Serdaroglu P., Ozdemir C., Rudel R. The dominant chloride channel mutant G200R causing fluctuating myotonia: Clinical findings, electrophysiology and channel pathology. Muscle Nerve. 21:1998;1122-1128.
10. Streib E.W. AAEM Minimonograph #27: Differential diagnosis of myotonic syndromes. Muscle Nerve. 10:1987;603-615.
11. Brook J.D., McCurrach M.E., Harley H.G. 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. 68:1992;799-808.
12. McClatchey A.I., Trofatter J., McKenna-Yasek D. et al. Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. Am J Hum Genet. 50:1992;896-901.
13. Hakim C.A., Thomlinson J. Myotonia congenita in pregnancy. J Obset Gynaecol. 76:1969;561-562.
14. Hopkins A., Wray S. The effect of pregnancy in dystrophica myotonica. Neurology. 17:1967;166-168.
15. Shore R.N., MacLachlan T.B. Pregnancy with myotonic dystrophy: course, complications and management. Obstet Gynecol. 38:1971;448-454.
16. Sarnat H.B., O'Connor T., Byrne P.A. Clinical effects of myotonia dystrophy on pregnancy and the neonate. Arch Neurol. 33:1976;459-465.
17. Rosenfeld J., Sloan-Brown K., George A.L. A novel muscle sodium channel mutation causes painful congenital myotonia. Ann Neurol. 42:1997;811-814.
18. Jaffe R., Mock M., Abramowicz J., Ben-Aderet N. Myotonic dystrophy and pregnancy: A review. Obstet Gynecol Surv. 41:1986;272-278.
19. Harper P.S. Myotonic dystrophy. 1989;W.B. Saunders, London.
20. Ricker K., Koch M.C., Lehmann-Horn F., Pongratz D., Otto M., Heine R., Moxley R.T. Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness and cataracts. Neurology. 44:1994;1448-1452.
21. Ricker K., Koch M.C., Lehmann-Horn F., Pongratz D., Speich N., Reiners K., Schneider G., Moxley R.T. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol. 52:1995;25-31.
22. Hund E., Jansen O., Koch M.C., Ricker K., Fogel W., Niedermaier N., Otto M., Kuhn E., Meinck H.M. Proximal myotonic myopathy with MRI white matter abnormalities of the brain. Neurology. 48:1997;33-37.
23. Khwaja S., Sripathi N., Ahmad B.K., Walker H., Feldman G.L., Roberson J.R., Gutierrez J.A. Proximal myotonic myopathy presenting as congenital hypotonia with asymptomatic mother [abstract]. Muscle Nerve. 21:1998;1598.
24. Streib E.W., Sun S.F. Myotonic muscular dystrophy associated with ritodrine tocolysis [Letter]. Am J Obstet Gynecol. 153:1985;593.
25. Ricker K., Haass A., Glotzner F. Fenoterol precipitating myotonia in a minimally affected case of recessive myotonia congenita. J Neurol. 219:1978;279-282.