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

Author(s) Marago I.; Roberts M.; Lilleker J.B.; Roncaroli F.; DuPlessis D. et al.
Source Rheumatology (Oxford, England); Jul 2021
Language English
OBJECTIVES: Diagnosing the idiopathic inflammatory myopathies (IIMs) can be challenging as several conditions, including genetic myopathies such as limb girdle muscular dystrophy type R12 (LGMD 2l, anoctaminopathy), mimic the presentation. Here we describe learning points identified from review of four patients with LGMD 2l 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.