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.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Emery AEH. The muscular dystrophies. Lancet. 2002;359:687–95.
Emery AEH, Dreifuss FE. Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966;29:338–42.
Helbing-Leclerc A, Bonne G, Schwartz K. Emery-Dreifuss muscular dystrophy. Eur J Hum Gene. 2002;10:157–61.
Yohanka S, Vytopil M, Bednarik J. A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with a conduction cardiomyopathy. Neuromuscul Disord. 2001;11:411–3.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2017 Springer-Verlag London Ltd.
About this chapter
Cite this chapter
Turner, C., Vivekananda, U. (2017). Carrying Shopping Can Be Difficult, Especially for Men. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_50
Download citation
DOI: https://doi.org/10.1007/978-1-4471-2389-7_50
Published:
Publisher Name: Springer, London
Print ISBN: 978-1-4471-2388-0
Online ISBN: 978-1-4471-2389-7
eBook Packages: MedicineMedicine (R0)