Payam Mohassel1, A Reghan Foley1, Sandra Donkervoort1, Pierre R Fequiere2, Katherine Pak3, Carsten G Bönnemann1, Andrew L Mammen3. 1. National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. 2. Department of Pediatrics, Division of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA. 3. Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Building 50, Room 1146, Bethesda, Maryland, 20892, USA.
Abstract
INTRODUCTION: Immune-mediated necrotizing myopathies (IMNMs) are characterized by progressive weakness, elevated serum creatine kinase levels, and necrotizing myopathic features on muscle biopsy. Presence of highly specific autoantibodies against signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl- coenzyme A reductase (HMGCR) can aid in recognition and confirmation of IMNMs. METHODS: In this study we describe a boy with HMGCR-positive necrotizing myopathy and highlight the clinical features of the patient. RESULTS: In contrast to most adults, the patient described had a more indolent disease course, reminiscent of a muscular dystrophy. Intravenous immunoglobulin monotherapy resulted in a dramatic clinical response with return to normal strength. CONCLUSIONS: Systematic consideration of IMNMs and testing for relevant autoantibodies in children with suspected but genetically unconfirmed muscular dystrophy may help improve diagnostic accuracy and allow timely treatment with potentially highly effective immunotherapies. Muscle Nerve 56: 175-179, 2017.
INTRODUCTION: Immune-mediated necrotizing myopathies (IMNMs) are characterized by progressive weakness, elevated serum creatine kinase levels, and necrotizing myopathic features on muscle biopsy. Presence of highly specific autoantibodies against signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl- coenzyme A reductase (HMGCR) can aid in recognition and confirmation of IMNMs. METHODS: In this study we describe a boy with HMGCR-positive necrotizing myopathy and highlight the clinical features of the patient. RESULTS: In contrast to most adults, the patient described had a more indolent disease course, reminiscent of a muscular dystrophy. Intravenous immunoglobulin monotherapy resulted in a dramatic clinical response with return to normal strength. CONCLUSIONS: Systematic consideration of IMNMs and testing for relevant autoantibodies in children with suspected but genetically unconfirmed muscular dystrophy may help improve diagnostic accuracy and allow timely treatment with potentially highly effective immunotherapies. Muscle Nerve 56: 175-179, 2017.
Authors: Shahar Shelly; Michelle M Mielke; Pritikanta Paul; Margherita Milone; Jennifer A Tracy; John R Mills; Christopher J Klein; Floranne C Ernste; Jay Mandrekar; Teerin Liewluck Journal: Muscle Nerve Date: 2022-02-28 Impact factor: 3.852
Authors: Rhys Thomas; Su-Ann Yeoh; Rupert Berkeley; Andrew Woods; Mike Stevens; Silvia Marino; Aleksandar Radunovic Journal: BMC Rheumatol Date: 2020-06-30
Authors: Payam Mohassel; Océane Landon-Cardinal; A Reghan Foley; Sandra Donkervoort; Katherine S Pak; Colleen Wahl; Robert T Shebert; Amy Harper; Pierre Fequiere; Matthew Meriggioli; Camilo Toro; Daniel Drachman; Yves Allenbach; Olivier Benveniste; Anthony Béhin; Bruno Eymard; Pascal Lafôret; Tanya Stojkovic; Andrew L Mammen; Carsten G Bönnemann Journal: Neurol Neuroimmunol Neuroinflamm Date: 2018-12-12