Carrying Shopping Can Be Difficult, Especially for Men

Chapter

Abstract

Emery Dreifuss Muscular dystrophy (EDMD) is an X-linked recessive condition although female carriers may be mildly affected. This case illustrates the cardinal features observed in EDMD; namely slowly progressive muscle weakness in a humeroperoneal distribution first affecting the distal leg muscles followed by proximal arm muscles. The early development of contractures is common and dilated cardiomyopathy may occur. Diagnosis is confirmed by mutation analysis of the emerin gene and/or the loss of emerin on immunocytochemmistry of muscle tissue.

Keywords

Humeroperoneal X-linked Contractures Cardiomyopathy Emerin 

References

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Copyright information

© Springer-Verlag London Ltd. 2017

Authors and Affiliations

  1. 1.MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and NeurosurgeryLondonUK
  2. 2.Department of NeurologyNational Hospital for Neurology and NeurosurgeryLondonUK

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