Sarcoglycanopathy - a rare case report and literature review

Authors

  • Ekramul Mustafa Lecturer, Department of Physiology, Dhaka Medical College, Dhaka
  • Md Azizul Hasan Khandaker Consultant (Medicine), Upazila Health Complex, Adamdighi, Bogra
  • Md Mamunur Rashid MD student, Department of Neurology, Dhaka Medical College, Dhaka
  • Swapon Kumar Ghose Assistant Professor, Department of Neurology, Dhaka Medical College, Dhaka
  • Masood Salehin Lecturer, Department of Physiology, Dhaka Medical College, Dhaka
  • Ahmed Riyad Hussain Medical Officer, Critical Care Unit, NINS, Dhaka
  • KM Nurus Sabah Assistant Professor, Department of Cardiology, Dhaka Medical College, Dhaka

DOI:

https://doi.org/10.3329/jdmc.v22i2.21551

Keywords:

Sarcoglycanopathy, Dystrophinopathy, Limb girdle muscular dystrophies

Abstract

Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance designated as á, â, ã, or ä sarcoglycanopath.; which belong to the group of limb girdle muscular dystrophies and are caused by mutations in any of the four sarcoglycan genes: alpha (LGMD 2D), beta (LGMD 2E), gamma (LGMD 2C) and delta (LGMD 2F). The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from Bangladesh are scarce. We report a rare case of primary sarcoglycanopathy (SGP) which emphasizes the evolving concept of dystrophinopathy to sarco-glycanopathy. and describe literature pertaining to this rare entity

DOI: http://dx.doi.org/10.3329/jdmc.v22i2.21551

J Dhaka Medical College, Vol. 22, No.2, October, 2013, Page 232-235

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Published

2015-01-09

How to Cite

Mustafa, E., Khandaker, M. A. H., Rashid, M. M., Ghose, S. K., Salehin, M., Hussain, A. R., & Sabah, K. N. (2015). Sarcoglycanopathy - a rare case report and literature review. Journal of Dhaka Medical College, 22(2), 232–235. https://doi.org/10.3329/jdmc.v22i2.21551

Issue

Vol. 22 No. 2 (2013)

Section

Case Reports