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Muscle Nerve. 2017 Dec;56(6):1177-1181. doi: 10.1002/mus.25567. Epub 2017 Apr 25.

Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child.

Author information

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.

KEYWORDS:

HMGCR; IVIg; linear scleroderma; muscular dystrophy; myositis; necrotizing myopathy

PMID:
28066895
DOI:
10.1002/mus.25567
[Indexed for MEDLINE]

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