Sporadic Inclusion Body Myositis and Other Rimmed Vacuolar Myopathies

Conrad C. Weihl, MD, PhD Muscle and Neuromuscular Junction Disorders p. 1586-1598 December 2019, Vol.25, No.6 doi: 10.1212/CON.0000000000000790
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PURPOSE OF REVIEW This article reviews the clinical, laboratory, and histopathologic features of sporadic inclusion body myositis (IBM) and explores its pathogenic overlap with inherited myopathies that have IBM-like pathology.

RECENT FINDINGS Sporadic IBM is the most common acquired muscle disease in patients older than 50 years of age and is becoming more prevalent because of the increasing age of the population, the emerging development of more inclusive diagnostic criteria, and the advent of a diagnostic autoantibody. No effective therapy is known, and the pathogenic mechanism remains unclear. Some pathogenic insight can be gleaned from other myopathies with pathologic similarities or hereditary inclusion body myopathies. Although clinically distinct from sporadic IBM, preclinical models of hereditary inclusion body myopathy have offered an opportunity to move some therapies toward clinical development.

SUMMARY Patients with sporadic IBM experience significant morbidity, and the disease is associated with a large unmet medical need. As therapies are developed, improved diagnosis will be essential. Early diagnosis relies on awareness, clinical history, physical examination, laboratory features, and appropriate muscle biopsy processing. Future research is needed to understand the natural history, identify genetic risk factors, and validate biomarkers to track disease progression. These steps are essential as we move toward therapeutic interventions.

Address correspondence to Dr Conrad C. Weihl, 660 S Euclid Ave, Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, weihlc@wustl.edu.

RELATIONSHIP DISCLOSURE: Dr Weihl has received personal compensation for serving on the advisory boards of Acceleron Pharma, Inc and Sarepta Therapeutics and for serving as a consultant for Sarepta Therapeutics. Dr Weihl has given expert medical testimony in court cases and has received research/grant support from the Muscular Dystrophy Association, the Myositis Association, and the National Institutes of Health.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Weihl reports no disclosure.

© 2019 American Academy of Neurology.