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Anti–3‐hydroxy‐3‐methylglutaryl‐coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child
Author(s) -
Mohassel Payam,
Foley A. Reghan,
Donkervoort Sandra,
Fequiere Pierre R.,
Pak Katherine,
Bönnemann Carsten G.,
Mammen Andrew L.
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25567
Subject(s) - muscular dystrophy , muscle biopsy , medicine , myopathy , creatine kinase , autoantibody , weakness , muscle weakness , biopsy , pathology , gastroenterology , antibody , immunology , surgery
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