Case ReportInternational Journal of Research in Medical Sciences

Publication:
An uncommon variant of rare type of muscular dystrophy

Int J Res Med Sci. 2013;1(3):313-316.DOI10.5455/2320-6012.ijrms20130835

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Abstract

The muscular dystrophies are a group of hereditary degenerative diseases characterised by progressive myopathy. Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetically heterogenous type of muscular dystrophy characterized by early contractures (especially in the neck, elbows and ankles), slowly progressing muscle weakness more prominent in humeroperoneal region, onset in early childhood and cardiac problems. Emery-Dreifuss muscular dystrophy is commonly inherited in an X linked recessive pattern and rarely autosomal dominant inheritance or autosomal recessive fashion. Here we report a case of autosomal recessive type of Emery-Dreifuss muscular dystrophy from our hospital.

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Affiliations

  1. Associate Professor, Department of General Medicine, Vydehi Institute of Medical Sciences and Research centre, White field, Bangalore-560066, Karnataka
  2. Professor and Head, Department of General Medicine, Vydehi Institute of Medical Sciences and Research centre, White field, Bangalore-560066, Karnataka
  3. Assistant Professor, Department of General Medicine, Vydehi Institute of Medical Sciences and Research centre, White field, Bangalore-560066, Karnataka
  4. Post Graduate, Department of General Medicine, Vydehi Institute of Medical Sciences and Research centre, White field, Bangalore-560066, Karnataka
  5. Professor, Department of Pathology, Vydehi Institute of Medical Sciences and Research centre, White field, Bangalore-560066, Karnataka

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