Congenital Muscular Dystrophy and Congenital Myopathy

Russell J. Butterfield, MD, PhD, FAAN Muscle and Neuromuscular Junction Disorders p. 1640-1661 December 2019, Vol.25, No.6 doi: 10.1212/CON.0000000000000792
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PURPOSE OF REVIEW Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. This article summarizes the clinical and genetic aspects of these disorders.

RECENT FINDINGS Historically, diagnoses of congenital muscular dystrophy and congenital myopathy have been made by clinical features and histopathology; however, recent advances in genetics have changed diagnostic practice by relying more heavily on genetic findings. This article reviews the clinical and genetic features of the most common congenital muscular dystrophies including laminin subunit alpha 2 (LAMA2)–related (merosin deficient), collagen VI–related, and α-dystroglycan–related congenital muscular dystrophies and reviews the most common congenital myopathies including nemaline rod, core, and centronuclear myopathies. With the increasing accessibility of genetic testing, the number of genes found to be associated with these disorders has increased dramatically. A wide spectrum of severity and onset (from birth to adulthood) exist across all subtypes. Progression and other features are variable depending on the subtype and severity of the specific genetic mutation.

SUMMARY Congenital muscular dystrophy and congenital myopathy are increasingly recognized disorders. A growing appreciation for the breadth of phenotypic variability and overlap between established subtypes has challenged long-standing phenotypic and histopathologic classifications of these disorders but has driven a greater understanding of pathogenesis and opened the door to the development of novel treatments.

Address correspondence to Dr Russell J. Butterfield, Departments of Pediatrics and Neurology, University of Utah School of Medicine, 15 N 2030 E, Salt Lake City, UT 84112, russell.butterfield@hsc.utah.edu.

RELATIONSHIP DISCLOSURE: Dr Butterfield has received personal compensation for serving on the scientific advisory boards of Biogen and Sarepta Therapeutics. Dr Butterfield has received research/grant support as principal investigator of studies from Acceleron Pharma, Inc; AveXis, Inc; Biogen; Capricor Therapeutics; Catabasis Pharmaceuticals; the National Institutes of Health and National Institute of Neurological Disorders and Stroke; Pfizer Inc; PTC Therapeutics; and Sarepta Therapeutics.

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

© 2019 American Academy of Neurology.