Neurol. praxi. 2010;11(2):100-103

Congenital myasthenic syndromes and childhood myasthenia gravis

MUDr.Michala Jakubíková
Neurologická klinika 1. LF UK a VFN, Praha

We encounter both acquired and congenital disorders of neuromuscular transmission during childhood. Juvenile myasthenia gravis

and transient neonatal myasthenia gravis are classified as acquired and autoimmune disorders. Congenital disorders of neuromuscular

transmission are heterogenous genetically determined disorders which are known as congenital myasthenic syndromes. This review is

dealing with their pathogenesis, classification, clinical and laboratory characteristics, various difficulties in the area of diagnosis including

molecular genetic analysis and their treatment.

analysis, prenatal diagnosis.

Keywords: congenital myasthenic syndromes, juvenile myasthenia gravis, transient neonatal myasthenia gravis, molecular genetic

Published: April 1, 2010  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Jakubíková M. Congenital myasthenic syndromes and childhood myasthenia gravis. Neurol. praxi. 2010;11(2):100-103.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horvath R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Muller-Felber W, Pongratz D, Rudel R, Lochmuller H. A common mutation (epsilon1267delG) in congenital myasthenic patiens of Gypsy ethnic origin. Neurology 1999; 53: 1564-1569. Go to original source... Go to PubMed...
    2. Afifi AK, Bell WE. Tests for juvenile myasthenia gravis: Comparative diagnostic yield and prediction of outcome. J Child Neurol 1993; 8: 403. Go to original source... Go to PubMed...
    3. Andrews PI, Massey JM, Sanders DB. Acetylcholine receptor antibodies in juvenile myasthenia gravis. Neurology 1993; 43: 977. Go to original source... Go to PubMed...
    4. Andrews PI. Autoimmune myasthenia gravis in childhood. Sem Neurol 2004; 24: 101. Go to original source... Go to PubMed...
    5. Barlow CF. Neonatal myasthenia gravis. Am J Dis Child 1981; 135: 209. Go to original source... Go to PubMed...
    6. Beeson D, Hantai D, Lochmuller H, Engel AG. 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarde, the Netherlands. Neuromuscul Disord 2005; 15: 498-512. Go to original source... Go to PubMed...
    7. Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science Express 2006; 313: 1975-1978. Go to original source... Go to PubMed...
    8. Bowman JR. Myasthenia gravis in young children: Report of three cases: One congenital. Pediatrics 1948; 1: 472. Go to original source... Go to PubMed...
    9. Byring RF, Pihko H, Tsujino A, Shen XM, Gustaffson B, Hackman P, Ohno K, Engel AG, Udd B. Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. Neuromuscul Disord 2002; 12: 548-553. Go to original source... Go to PubMed...
    10. Drachman DB. Myasthenia gravis. Part I. N Engl J Med 1978; 298: 136. Go to original source... Go to PubMed...
    11. Engel AG, Franzini-Armstrong C. Myology: Basic and Clinical. McGraw-Hill, New York 1994.
    12. Engel AG, Ohno K, Sine SM. Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat Rev Neurosci 2003; 4: 339-352. Go to original source... Go to PubMed...
    13. Engel AG, Sine SM. Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol 2005; 5: 308-321. Go to original source... Go to PubMed...
    14. Engel AG. Congenital disorders of neuromuscular transmission. Semin Neurol 1990; 10: 12. Go to original source... Go to PubMed...
    15. Engel AG. The therapy of congenital myasthenic syndromes. Neurotherapeutics 2007; 4: 252-257. Go to original source... Go to PubMed...
    16. Geh VS, Bradbury JA. Ocular myasthenia presenting in an 11-month-old boy. Eye 1998; 12: 319. Go to original source... Go to PubMed...
    17. Hantai D, Richard P, Koenig J, Eymard B. Congenital myasthenic syndromes. Curr Opin Neurol 2004; 17: 539-551. Go to original source... Go to PubMed...
    18. Harper CM, Fukodome T, Engel AG. Treatment of slowchannel congenital myasthenic syndrome with fluoxetine. Neurology 2003; 60: 1710-1713. Go to original source... Go to PubMed...
    19. Karcagi V, Tournev I, Schmidt C, Herczegfalvi A, Guergueltcheva V, Litvinenko I, Song IH, Abicht A, Lochmuller H. Congenital myasthenic syndrom in southeastern European Roma (Gypsies). Acta Myologica 2001; 20: 231-238.
    20. Kraus J, Piťha J. Juvenilní myasthenia gravis. Naše zkušenosti s příznivým terapeutickým efektem tymektomie. Čs Pediatr 1998; 11: 670-678.
    21. Lanska DJ. Indications for thymectomy in myasthenia gravis. Neurology 1990; 40: 1828. Go to original source... Go to PubMed...
    22. Liu JHK, Ericsson K. Cholinergic agents. In: Albert DM, Jakobiec FA, eds. Principles and practise of ophtalmology: Basic sciences. Philadelphia: WB Saunders 1994: 985.
    23. Misulis KE, Fenichel GM. Genetic forms of myasthenia gravis. Pediatr Neurol 1989; 5: 205-210. Go to original source... Go to PubMed...
    24. Ohno K, Engel AG. Congenital myasthenic syndromes: gene mutations. Neuromuscul Disord 2004; 14: 117-122.
    25. Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG. Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci USA 2001; 98: 2017-2022. Go to original source... Go to PubMed...
    26. O'carroll P, Bertorini TE, Jacob G, Mitchell CW, Graff J. Transient neonatal myasthenia gravis in a baby born to a mother with new-onset anti-MUSK-mediated myasthenia gravis. J Clin Neuromuscul Dis. 2009; 11(2): 69-71. Go to original source... Go to PubMed...
    27. Okada K, Inoue A, Okada M, Murata Y, Kakuta S, Jigami T, Kubo S, Shiraishi H, Eguchi K, Motomura M, Akiyama T, Iwakura Y, Higuchi O, Yamanashi Y. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science 2006; 312: 1802-1805. Go to original source... Go to PubMed...
    28. Scuderi F, Marino M, Colonna L, Mannella F, Evoli A, Provenzano C, Bartoccioni E. Anti-P110 autoantibodies identify a subtype of, ,seronegative" myasthenia gravis with prominent oculobulbar involvement. Lab Invest 2002; 82: 1139-1146. Go to original source... Go to PubMed...

    Return to the content


    Neurology for Practice

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.