Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotype

Suhas M, Sanket Patil, Shivani Nayak

Pdf Page Numbers :- 120-122

Suhas M^1,*, Sanket Patil¹, and Shivani Nayak²

¹Department of Neurology, Bangalore Medical College and Research Institute, Krishna Rajendra Rd., Bengaluru-560002, Karnataka

²Fellow in Phaco-Refractive Surgery, Lions Super Speciality Eye Hospital, Bengaluru-560002, Karnataka

*Corresponding author: Dr. Suhas M, Assistant Professor in the Department of Neurology, Bangalore Medical College and Research Institute, Krishna Rajendra Rd., Bengaluru-560002, Karnataka. Email: suhas.murali@gmail.com

Received 8 July 2019; Revised 29 August 2019; Accepted 9 September 2019; Published 23 September 2019

Citation: Suhas M, Patil S, Nayak S. Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotype. J Med Sci Res. 2019; 7(4):120-122. DOI: http://dx.doi.org/10.17727/JMSR.2019/7-21

Copyright: © 2019 Suhas M et al. Published by KIMS Foundation and Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Abstract

Facioscapulohumeral dystrophy (FSHD), is a rare muscle disease in clinical practice. Identifying the condition with its classic clinical signs helps in better managing patients early. This report is to shed light upon this condition and signs associated with it. We also try to elaborate a few genetic aspects and their pathogenetic mechanisms in the review.

Keywords: Polyhill sign; Popeye sign; coats disease; facioscapulohumeral dystrophy