Advertisement

Myopathies: Congenital, Metabolic and Mitochondrial, and Channelopathies

  • Chantal Crochetiere
  • Elsa Lidzborski
Chapter

Abstract

  1. 1.

    Congenital myopathies (CM) are rare. This heterogeneous group of myopathies is characterized by generalized hypotonia and muscle weakness present at birth, hypoactive deep tendon reflexes with motor developmental delay, normal intelligence, and specific abnormalities on muscle biopsy [1]. The weakness is usually stable or slowly progressive over time.

     
  2. 2.

    In parturients, respiratory involvement is essential to assess, because musculoskeletal changes can lead to scoliosis, with pulmonary impact and neuraxial technical challenges. Congenital myopathies include nemaline (most common CM), myotubular, central core, multicore, and cylindrical spiral myopathies and congenital fiber-type disproportion.

     
  3. 3.
    Central core disease was the first specific congenital myopathy to be described.
    1. (a)

      This myopathy is most clearly associated with malignant hyperthermia, both entities implying mutations in the ryanodine receptor gene on chromosome 19 [2, 3].

       
    2. (b)

      Muscle involvement, mainly proximal, is variable, as is its severity. Cardiac function is typically not impaired.

       
    3. (c)

      Congenital hip dislocation can also be seen; hence, the positioning during labor in parturients with that type of myopathy must be cautious [4].

       
     

Keywords

Congenital myopathies Pregnancy Central core disease Metabolic myopathies CPTD Mitochondrial myopathies Channelopathies Malignant hyperthermia Hyperkalemia Scoliosis Below is a brief discussion of inherited myopathies. For detailed information about muscular dystrophies, please see the section on “Myopathies: Muscular Dystrophies.” 

References

  1. 1.
    Crochetière C. Chapter 5: Myopathies. Obstetric anesthesia and uncommon disorders. 2nd ed. Cambridge: Cambridge University Press; 2008. p. 101–14.CrossRefGoogle Scholar
  2. 2.
    Chestnut D, Wong C, Tsen L, Ngan Kee W, Beilin Y, Mhyre J. Chestnut’s obstetric anesthesia: principles and practice. 5th ed. Amsterdam: Elsevier; 2014.Google Scholar
  3. 3.
    Argov Z, Visser M. What we do know about pregnancy in hereditary neuromuscular disorders. Neuromuscul Disord. 2009;19:675–9.CrossRefGoogle Scholar
  4. 4.
    Awater C, Zerres K, Rudnik-Schoneborn S. Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. Eur J Obstet Gynecol Reprod Biol. 2012;162(2):153–9.CrossRefGoogle Scholar
  5. 5.
    Lilker S, Kasodekar S, Goldszmidt E. Anesthetic management of a parturient with carnitine palmitoyltransferase II deficiency. Can J Anaesth. 2006 May;53(5):482–6.CrossRefGoogle Scholar
  6. 6.
    Laquay N, Prieur S, Greff B, Meyer P, Orliaguet G. Propofol infusion syndrome. Ann Franc Anesth Réanimat. 2010;29:377–86.CrossRefGoogle Scholar
  7. 7.
    Guidon AC, Massey EW. Neuromuscular disorders in pregnancy. Neurol Clin. 2012 Aug;30(3):889–911.CrossRefGoogle Scholar
  8. 8.
    Aldridge LM. Anaesthetic problems with myotonic dystrophy. A case report and review of the Aberdeen experience comprising 48 general anaesthetics in a further 16 patients. Br J Anaesth. 1985;57:1119–30.CrossRefGoogle Scholar
  9. 9.
    Racca and al. Recommendations for anesthesia and perioperative management of patients with neuromuscular diseases. Miner Anestesil. 2013;79(4):419–33.Google Scholar
  10. 10.
    Parness J, Bandschapp O, Girard T. The myotonias and susceptibility to malignant hyperthermia. Anesth Analg. 2009;109(4):1054–64.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Chantal Crochetiere
    • 1
  • Elsa Lidzborski
    • 2
  1. 1.Department of AnesthesiaSainte-Justine HospitalMontréalCanada
  2. 2.Department of AnesthesiaPitié-Salpêtrière HospitalParisFrance

Personalised recommendations