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

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