LMNA-related muscular dystrophy presenting as an inflammatory myopathy

Abstract

Introduction

There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities.

Methods/Results

A 12-year-old girl diagnosed with juvenile dermatomyositis as a child presented with cardiac failure and was found to have an LMNA likely pathogenic variant, with a phenotype most consistent with Emery–Dreifuss muscular dystrophy type 2.

Discussion

The spectrum of clinical features of LMNA-related muscular dystrophies can mimic or present with inflammatory myopathy-like features. Early identification of LMNA-related muscular dystrophies is crucial to ensure appropriate cardiac screening and prevent devastating cardiac complications.