Immune-mediated necrotizing myopathy: Unusual presentations of a treatable disease

Muscle Nerve. 2021 Dec;64(6):734-739. doi: 10.1002/mus.27435. Epub 2021 Oct 15.


Introduction/aims: Immune-mediated necrotizing myopathy (IMNM) is an immune-mediated myopathy typically presenting with progressive subacute weakness and characteristic, but nonspecific, myopathological findings. Atypical cases however can mimic other inherited or acquired myopathies, depriving patients of treatment. We describe a cohort of such patients.

Methods: We retrospectively identified IMNM patients who either previously carried a diagnosis of an inherited myopathy established on clinicopathological grounds or whose muscle biopsies displayed atypical features suggestive of a different myopathy.

Results: Among 131 IMNM patients, seven previously unreported patients (5%) met one of the above criteria. Three patients were diagnosed with limb-girdle muscular dystrophy on the basis of a chronic progressive course of weakness and family history of myopathy or cardiomyopathy. The other four patients displayed atypical histological features (two prominent mitochondrial abnormalities, one myofibrillar pathology, and one granulomatous inflammation). Immunostaining of biopsies from 12 additional IMNM patients did not identify myofibrillar pathology. The patient with granulomatous inflammation was known to have pulmonary sarcoidosis. Genetic testing for inherited myopathies was unrevealing. Antibodies against 3-hydroxy-3-methylglutaryl-CoA reductase or signal recognition particle were identified in 5 and 1 patients, respectively. Four patients presented with slowly progressive weakness over 3-13 y, while weakness was subacute over ≤6 mo in three patients. All patients responded to immunomodulatory therapy.

Discussion: Atypical clinical and histological features can occur in IMNM patients, causing delays in diagnosis and treatment. Clinicians should, therefore, consider IMNM in the differential diagnosis of unexplained proximal myopathies in spite of atypical clinical and myopathological findings.

Keywords: immune-mediated necrotizing myopathy; mitochondrial myopathy; muscular dystrophy; myofibrillar myopathy; necrotizing autoimmune myopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoantibodies
  • Autoimmune Diseases*
  • Humans
  • Muscle, Skeletal / pathology
  • Muscular Diseases* / diagnosis
  • Muscular Diseases* / pathology
  • Myositis* / complications
  • Myositis* / diagnosis
  • Necrosis / pathology
  • Retrospective Studies


  • Autoantibodies