Sarcoglycanopathy - A Rare Case Report and Literature Review

Authors

  • Ekramul Mustafa Dhaka Medical College
  • Md. Azizul Hasan Khandaker Upazilla Health Complex, Adamdighi, Bogra
  • Md. Mamunur Rashid Dhaka Medical College & Hospital
  • Swapon Kumar Ghose Dhaka Medical College & Hospital
  • Mostofa Kamal Chowdhury Dhaka Medical College & Hospital

DOI:

https://doi.org/10.3329/jom.v15i1.19880

Keywords:

Sarcoglycanopathy, Dystrophinopathy, Limb girdle muscular dystrophies

Abstract

Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance designated as a, b, g, or d sarcoglycanopath.; which belong to the group of limb girdle muscular dystrophies (LGMD) 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/jom.v15i1.19880

J Medicine 2014; 15: 77-79

Downloads

Download data is not yet available.
Abstract
1075
PDF
609

Author Biographies

Ekramul Mustafa, Dhaka Medical College

Lecturer, Department of Physiology

Md. Azizul Hasan Khandaker, Upazilla Health Complex, Adamdighi, Bogra

Consultant (Medicine)

Md. Mamunur Rashid, Dhaka Medical College & Hospital

MD student, Neurology

Swapon Kumar Ghose, Dhaka Medical College & Hospital

MD (Neurology)

Mostofa Kamal Chowdhury, Dhaka Medical College & Hospital

Indoor Medical Officer, Department of Medicine

Downloads

Published

2014-08-06

How to Cite

Mustafa, E., Khandaker, M. A. H., Rashid, M. M., Ghose, S. K., & Chowdhury, M. K. (2014). Sarcoglycanopathy - A Rare Case Report and Literature Review. Journal of Medicine, 15(1), 77–79. https://doi.org/10.3329/jom.v15i1.19880

Issue

Vol. 15 No. 1 (2014)

Section

Case Reports

License

Authors who publish with this journal agree to the following terms:

    1. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

    1. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

  1. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).