Neurol. praxi. 2018;19(2):108-113 | DOI: 10.36290/neu.2018.087

New therapies in neuromuscular disorders in childhood

MUDr. Jana Haberlová, Ph.D.
Neuromuskulární centrum, Klinika dětské neurologie 2. LF UK a FN Motol, Praha

Neuromuscular disorders are disorders affecting peripheral nerves, neuromuscular junction, and muscles. Clinically, these disordersmost frequently cause progressive muscle weakness. By incidence, these disorders are rare. Nevertheless, they are verysevere; they cause high invalidity, and can lead to loss of ambulation, the necessity of ventilation support, and shortening of lifeexpectancy together with keeping normal cognition. In recent years, mostly due to the development of genetics, new knowledgeabout the pathogenesis has grow exponentially and new drugs have been developed. The new therapy based on modificationof gene transcription and translation is very promising.

Keywords: neuromuscular disorders, diagnostic, therapy, small molecules

Published: May 1, 2018  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Haberlová J. New therapies in neuromuscular disorders in childhood. Neurol. praxi. 2018;19(2):108-113. doi: 10.36290/neu.2018.087.
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. Bednařík J. Svalové dystrofie. Neurol. praxi, 2004; 3: 137-114.
    2. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C. Diagnosis and management of Duchenne muscular dystrophy. Lancet Neurol 2010; 9: 77-93. Go to original source...
    3. Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve. 2014; 50(4): 477-487. Go to original source...
    4. Eagle M, Bourke J, Bullock R, Gibson M, Mehta J, Giddings D, Straub V, Bushby K. Managing Duchenne muscular dystrophy - the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscular Disorders 2007; 17: 470-475. Go to original source... Go to PubMed...
    5. Ehler E. Současné trendy v EMG. Neurol. praxi 2008; 9(2): 65-68.
    6. Ehler E. Periferní neuropatie v ambulantní praxi. Neurol. praxi 2009; 10(1): 32-36.
    7. Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Yamashita M, Rigo F, Hung G, Schneider E, Norris DA, Xia S, Bennett CF, Bishop KM. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet 2016; 388. Go to original source...
    8. Chiriboga CA. Nusinersen for the treatment of spinal muscular atrophy. Expert Review of Neurotherapeutics 2017; 17: 955-962. Go to original source... Go to PubMed...
    9. Jakubíková M. Kongenitální myastenické syndromy a myasthenia gravis dětského věku. Neurol. praxi 2010; 11(2): 100-103.
    10. Katzin LW, Amato AA. Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. J Clin Neuromuscul Dis. 2008; 9(4): 421-431. Go to original source... Go to PubMed...
    11. Laing NG. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci. 2012; 49(2): 33-48. Go to original source...
    12. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frézal J, Cohen D, Weissenbach J, Munnich A, Melki J. Identification and characterisation of a SMA - determining gene. Cell 1995; 13(80): 155-165. Go to original source...
    13. Lim KRQ, Maruyama R, Yokota T. Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug Design, Development and Therapy 2017; 11: 533-545. Go to original source... Go to PubMed...
    14. Main M, Kairon H, Mercuri E,Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol. 2003; 7(4): 155-159. Go to original source... Go to PubMed...
    15. Norwood FLM, Harling Ch, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle cloníc opulation. Brain 2009; 132: 3175-3186. Go to original source... Go to PubMed...
    16. Scully MA, Pandya S, Moxley RT. Review of Phase II and Phase III clinical trials for Duchenne muscular dystrophy. Expert Opinion on Orphan Drugs 2013; 1(1): 33-46. Go to original source...
    17. Straub V, Carlier PG, Mercuri E. TREAT-NMD workshop: Pattern recognition in genetic muscle diseases using muscle MRI 25-26 February 2011, Rome, Italy. Neuromuscular Disorders 2012; 22: S42-S53. Go to original source... Go to PubMed...
    18. Strenková J, Voháňka S, Haberlová J, Junkerová J, Mazanec R, Mrázová L, Parmová O, Ridzoň P, Staněk J, Šišková D, Vondráček P, Brabec P, Šnajdrová I. REaDY - český registr svalových dystrofií. Cesk Slov Neurol N 2014; 77/110(2): 230-234.
    19. Wang ChH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A and Participants of the International Conference on SMA Standard of Care. Consensus Statement for Standard of Care in Spinal Muscular Atrophy. J Child Neurol. 2007; 22(8): 1027-1049. Go to original source... Go to PubMed...
    20. Zanetta Ch, Riboldi G, Nizzardo M, Simone Ch, Faravelli I, Bresolin N, Comi GP, Corti S. Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). J. Cell. Mol. Med. 2014; 18(2): 187-196. 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.