Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis

Author(s): Newton, Laura: Department of Rheumatology, Burnley General Teaching Hospital et al. 
Source: Rheumatology, Volume 61, Issue 4, April 2022, Pages 1645–1650.
Abstract: Diagnosing the idiopathic inflammatory myopathies (IIMs) can be challenging as several conditions, including genetic myopathies such as limb girdle muscular dystrophy type R12 (LGMD 2 l, anoctaminopathy) mimic the presentation. Here we describe learning points identified from review of four patients with LGMD 2 l who were initially incorrectly diagnosed with IIM. Our aim is to provide clinicians working in adult rheumatology services with a toolkit to help identify non-inflammatory presentations of myopathy.

• Available here https://doi.org/10.1093/rheumatology/keab553