A case series reveals selenoprotein N gene-related myopathy to be progressive and severe

Takeaway

  • SEPN1-related myopathy is severe and progressive, often leading to loss of ambulation and the need for ventilation due to respiratory failure.

Why this matters

    SEPN1-related myopathy is an extremely rare disease and its prevalence is unknown. This study included the largest international SEPN1-related myopathy series and enables clinical practice to improve diagnosis, management, and follow-up, as well as increase disease awareness and recognition of its phenotypic characteristics.