Neonatology pp 1232-1239 | Cite as

Neuromuscular Disorders

  • Paolo Balestri
  • Salvatore Grosso


Neuromuscular disorders (NDs) are important causes of neonatal weakness and hypotonia. They are caused by disorders affecting the motor unit which anatomically includes a motor neuron, its axon, the neuromuscular junction, and all muscle fibers innervated by that single motor neuron [1].


Spinal Muscular Atrophy Survival Motor Neuron Pompe Disease Creatine Kinase Serum Level Congenital Muscular Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Dubowitz V (1995) Muscle disorders in childhood. Saunders, LondonGoogle Scholar
  2. 2.
    Volpe J (2008) Neuromuscular disorders: levels above the lower motor neuron to the neuromuscular junction. In: Volpe J (ed) Neurology of the newborn. Saunders, Philadelphia, pp 767–800Google Scholar
  3. 3.
    Volpe J (2008) Neuromuscular disorders: muscle involvement and restricted disorders. In: Volpe J (ed) Neurology of the newborn. Saunders, Philadelphia, pp 801–840Google Scholar
  4. 4.
    North K (2008) What’s new in congenital myopathies? Neuromuscul Disord 2008 18: 433–442CrossRefGoogle Scholar
  5. 5.
    Laing NG, Sewry CA, Lamont P (2007) Congenital myopathies. Handb Clin Neurol 86: 1–33PubMedCrossRefGoogle Scholar
  6. 6.
    Sharma MC, Jain D, Sarkar C et al (2009) Congenital myopathies–a comprehensive update of recent advancements. Acta Neurol Scand 119: 281–292PubMedCrossRefGoogle Scholar
  7. 7.
    Zhou H, Yamaguchi N, Xu L et al (2006) Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Gen 15: 2791–2803PubMedCrossRefGoogle Scholar
  8. 8.
    Zhou H, Jungbluth H, Sewry CA et al (2007) Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain 130: 2024–2036PubMedCrossRefGoogle Scholar
  9. 9.
    Jungbluth H, Davis MR, Muller C et al (2004) Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 14: 785–790PubMedCrossRefGoogle Scholar
  10. 10.
    Kaindl AM, Ruschendorf F, Krause S et al (2004) Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 41: 842–848PubMedCrossRefGoogle Scholar
  11. 11.
    Wallgren-Petterson C, Laign NG (2006) 138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden. The Netherlands. Neuromuscul Disord 16: 54–60Google Scholar
  12. 12.
    Wallgren-Petterson C, Pelin K, Nowack K J et al (2004) ENMC International Consortium On Nemaline Myopathy. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord 14: 461–470CrossRefGoogle Scholar
  13. 13.
    Wallgreen-Petterson C, Laing NG (1996) Nemaline myopathy. Neuromusc Disord 6: 389–391CrossRefGoogle Scholar
  14. 14.
    Ryan MM, Schnell C, Strickland CD et al (2001) Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 50: 312–320PubMedCrossRefGoogle Scholar
  15. 15.
    Buonocore G, Balestri P, Toti P et al (1993) A new case of severe congenital nemaline myopathy. Acta Paediatr 82: 1082–1084PubMedCrossRefGoogle Scholar
  16. 16.
    Tanner SM, Laporte J, Guiraurd-Chaumeil C et al (1998) Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening and description of three new mutations in the MTM1 gene. Hum Mutat 11: 62–68PubMedCrossRefGoogle Scholar
  17. 17.
    Jungbluth H, Wallgren-Pettersson C, Laporte J (2008) Centronuclear (myotubular) myopathy. Orphanet J Rare Dis 3: 26PubMedCrossRefGoogle Scholar
  18. 18.
    Wallgren-Pettersson C (2000) 72nd ENMC International Workshop: myotubular myopathy 1–3 October 1999, Hilversum, the Netherlands. Neuromuscul Disord 10:525–529Google Scholar
  19. 19.
    Mercuri E, Dubowitz V (2008) Neuromuscular disorders. In: Levine MI, Chervenak F (eds) Fetal and neonatal neurology and neurosurgery. Churchill Livingston Elsevier, Philadelphia, pp 792–809Google Scholar
  20. 20.
    Muntoni F, Torelli S, Brockington M (2008) Muscular dystrophies due to glycosylation defects. Neurotherapeutics 5: 627–632PubMedCrossRefGoogle Scholar
  21. 21.
    Reed UC (2009) Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr 67: 144–168PubMedCrossRefGoogle Scholar
  22. 22.
    Reed UC (2009) Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives. Arq Neuropsiquiatr 67: 343–362PubMedCrossRefGoogle Scholar
  23. 23.
    Muntoni F, Voit T (2005) 133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden.The Netherlands. Neuromuscul Disord 15: 794–801PubMedCrossRefGoogle Scholar
  24. 24.
    Yoshioka M, Saiwai S, Kuroki S (1991) MR imaging of the brain in Fukuyama-type congenital muscular dystrophy. AJNR Am J Neuroradiol 12: 63–65PubMedGoogle Scholar
  25. 25.
    Voit T (1998) Congenital muscular dystrophies: 1997 update. Brain Dev 20: 65–74PubMedCrossRefGoogle Scholar
  26. 26.
    Mercuri E, Longman C (2005) Congenital muscular dystrophy. Pediatr Ann 34: 564–568Google Scholar
  27. 27.
    Zeesman S, Carson N, Whelan DT (2002) Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature. Am J Med Genet 107: 222–226PubMedCrossRefGoogle Scholar
  28. 28.
    Nogajski JH, Kiernan MC, Ouvrier RA, Andrews PI (2009) Congenital myasthenic syndromes. J Clin Neurosci 16: 1–11PubMedCrossRefGoogle Scholar
  29. 29.
    Middleton LT (1995) Report on the 34th ENMC International workshop–congenital myasthenia syndromes. Neuromusc Disord 6: 133–136CrossRefGoogle Scholar
  30. 30.
    Ohno K, Anlar B, Engel AG (1999) Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene. Neuromusc Disord 9: 131–135PubMedCrossRefGoogle Scholar
  31. 31.
    Deymeer F, Serdaroglu R, Ozdemir C (1999) Familial infantile myasthenia: confusion in terminology. Neuromusc Disord 9: 129–130PubMedCrossRefGoogle Scholar
  32. 32.
    Rudnick-Schoneborn, Forkert R, Hahnen E et al (1996) Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of 5MN deletion findings. Neuropediatrics 27: 8–15Google Scholar
  33. 33.
    Lefebvre S, Biirglen L, Reboullet S et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 13: 1–5Google Scholar
  34. 34.
    MacLeod MJ, Taylor JE, Lunt PW et al (1999) Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol 3: 65–72PubMedGoogle Scholar
  35. 35.
    Kaindl AM, Guenther UP, Rudnik-Schöneborn S et al (2008) Spinal muscular atrophy with respiratory distress type 1 (SMARD1). J Child Neurol 23: 199–204PubMedCrossRefGoogle Scholar
  36. 36.
    Barth PG (1993) Pontocerebellar hypoplasia. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 15: 411–422PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Italia 2012

Authors and Affiliations

  • Paolo Balestri
    • 1
  • Salvatore Grosso
  1. 1.Department of Pediatrics, Obstetrics, and Reproductive Medicine, Division of PediatricsUniversity of SienaSienaItaly

Personalised recommendations