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Emery-Dreifuss muscular dystrophy in the evaluation of decreased spinal mobility and joint contractures

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Abstract

In this report we present three patients who had complaints primarily related to joints and flexibility. Two had no specific diagnosis and one was thought to have ankylosing spondylitis. Extensive evaluation revealed Emery-Dreifuss muscular dystrophy (EDMD) in all. EDMD is a muscular dystrophy where joint contractures and spinal limitation occur before any overt muscle weakness, and the syndrome may be combined with serious cardiac pathology. We wish to call the attention of professionals involved in rheumatology and physical medicine to the existence of this syndrome, which may only present with joint contractures and spinal limitation but which may end with fatal cardiac problems if not diagnosed in time.

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Abbreviations

EDMD:

Emery-Dreifuss muscular dystrophy

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Authors and Affiliations

  1. Department of Physical Medicine and Rehabilitation, Cukurova University Medical Faculty, 01330, Adana, Turkey

    Kamil Goncu, Rengin Guzel & Fusun Guler-Uysal

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  1. Kamil Goncu
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  2. Rengin Guzel
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  3. Fusun Guler-Uysal
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Correspondence to Kamil Goncu.

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Goncu, K., Guzel, R. & Guler-Uysal, F. Emery-Dreifuss muscular dystrophy in the evaluation of decreased spinal mobility and joint contractures. Clin Rheumatol 22, 456–460 (2003). https://doi.org/10.1007/s10067-003-0771-9

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  • DOI: https://doi.org/10.1007/s10067-003-0771-9

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