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Contractures in Emery-Dreifuss Syndrome

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Exercise Intolerance and Muscle Contracture

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Abstract

Emery-Dreifuss syndrome (EDS) is an inherited muscular disorder characterized by the clinical triad of: (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution early in the course of the disease, and later on weakness spreads to the proximal limb muscles; and (3) a cardiomyopathy usually presenting as an atrio-ventricular block ranging from sinus bradycardia, prolongation of the PR interval to complete heart block. First description of EDS will back to 1902 when Cestan and Lejonne found brother patients with “rétractions musculaires”. In 1966, Emery examined a large Virginian family affected with an X-linked muscular dystrophy [1]. The disease observed was quite distinct from both Duchenne and Becker muscular dystrophies (DMD and BMD); the unusual elbow and spine contractures, the proximal arm and distal leg pattern of weakness and the essential cardiac features. Similar symptoms were described in other families until 1979 when Rowland suggested the term “Emery-Dreifuss muscular dystrophy (EDMD) ” for this distinctive disease.

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Acknowledgements

We thank Drs. Hideo Sugita (Homorary President, NCNP, Japan) and Daniela Toniolo (Prof., CNR-IGBE, Italy) for their comments. This study has been supported in part by a Research Grant and - in - Aid for Brain Sciences from the Ministry of Health and Welfare, Japan.

Authors
  1. K. Arahata
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  2. S. Fujimoto
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  3. E. Uyama
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  4. T. Ishikawa
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  5. S. Kubo
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  6. Y. Tsuchiya
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  7. I. Nonaka
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Editors and Affiliations

  1. Service de Neurologie et des Maladies Neuromusculaires, Centre Hospitalier Universitaire de la Timone, Marseille, France

    Georges Serratrice MD, FRCP (Professor of Neurology), Jean Pouget MD (Professor of Neurology) & Jean-Philippe Azulay MD (Professor of Neurology) (Professor of Neurology),  (Professor of Neurology) &  (Professor of Neurology)

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© 1999 Springer-Verlag France

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Arahata, K. et al. (1999). Contractures in Emery-Dreifuss Syndrome. In: Serratrice, G., Pouget, J., Azulay, JP. (eds) Exercise Intolerance and Muscle Contracture. Springer, Paris. https://doi.org/10.1007/978-2-8178-0855-0_21

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  • DOI: https://doi.org/10.1007/978-2-8178-0855-0_21

  • Publisher Name: Springer, Paris

  • Print ISBN: 978-2-287-59669-8

  • Online ISBN: 978-2-8178-0855-0

  • eBook Packages: Springer Book Archive

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