Advertisement

Duchenne Muscular Dystrophy Carrier

  • Corrado Angelini
Chapter

Abstract

Heterozygous mutations in the DMD gene (Table 2.1) may be observed in female carriers of Duchenne muscular dystrophy. They are usually asymptomatic but may present with enlargement of calf muscles and muscle cramps. Some cases have overt muscle weakness or a severe myopathy, depending on the degree of random X-chromosome inactivation pattern. CK level is an important marker of carrier status, being elevated in about 70% of carriers. The use of antibodies to dystrophin in muscle biopsy has improved the identification of carriers, showing single or clustered fibers with negative dystrophin labeling. DMD carriers are susceptible to develop a dilated cardiomyopathy, since cardiac muscle cells cannot regenerate and an unfavorable X-chromosome inactivation pattern may result in large groups of negative fibers. Conversely, the skeletal muscle is a syncytium where regeneration is possible, and some nuclei can migrate and compensate for the lack of dystrophin. In the DMD carrier here described, the most relevant sign was dilated cardiomyopathy that required cardiac transplantation.

Keywords

DMD carrier Cardiomyopathy Dystrophin 

References

  1. 1.
    Melacini P, Fanin M, Angelini A, et al. Cardiac transplantation in a Duchenne muscular dystrophy carrier. Neuromuscul Disord. 1998;8:585–90.CrossRefPubMedGoogle Scholar
  2. 2.
    Melacini P, Gambino A, Caforio A, et al. Heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy: molecular and biochemical defects on cardiac and skeletal muscle. Transplant Proc. 2001;33:1596–9.CrossRefPubMedGoogle Scholar
  3. 3.
    Fanin M, Melacini P, Angelini C, Danieli GA. Could utrophin rescue the myocardium in patients with dystrophin gene mutation? J Mol Cell Cardiol. 1999;31(8):1501.CrossRefPubMedGoogle Scholar
  4. 4.
    Emery AEH. Duchenne muscular dystrophy: genetic aspects, carrier detection and antenatal diagnosis. Br Med Bull. 1980;36:117–22.CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2018

Authors and Affiliations

  • Corrado Angelini
    • 1
  1. 1.IRCCS Fondazione S.Camillo HospitalUniversità di Padova, Dipartimento di Neuroscienze PadovaVeniceItaly

Personalised recommendations