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Over time, the field of muscular dystrophy has evolved from a largely descriptive one based on examination and muscle histopathology to a genetically-based one that requires the integration of a sophisticated knowledge of both phenotype and genetics, although muscle biopsy continues to play an important role.  In choosing the 11 recent articles for this virtual special issue we attempted to reflect the diverse interests of the readership of Muscle & Nerve.

Genetic modifiers are an important topic of investigation, as discussed in the review article by Hightower and Alexander.  The limits of genetic testing have become apparent, however, as demonstrated by the continued diagnostic importance of muscle biopsies in the retrospective study of Carlson et al.  The papers by Feng et al and Gomez Andres et al highlight an interest in muscle imaging as a diagnostic tool and outcome measure for limb-girdle muscular dystrophy, a heterogeneous and complex group of dystrophies for which Liewluck et al provide a nice overview.

Outcome measures and complications form the basis of several interesting papers.  Studies of cardiac involvement are provided Silvestri et al and by Dea Cirino et al, while dietary factors and body composition are the basis of the article by Bernabe Garcia et al.  More generally, Arora et al studied key outcome measures in boys with Duchenne muscular dystrophy.  

It is important for physicians to keep up to date with clinically-relevant scientific publications.  A mouse study by Giovanelli et al suggests that the immune system may help counteract some of the muscle damage that occurs in limb-girdle muscular dystrophy type 2E.  Autophagy does not function optimally in a golden retriever model of Duchenne muscular dystrophy, as found by Stoughton et al.  Such studies help us understand disease processes better and provide insights into possible therapeutic targets.

We hope that you enjoy this collection of diverse articles.

Zachary Simmons, MD, Editor-in-Chief, Muscle & Nerve 

Peter B. Kang, MD, Associate Editor, Muscle & Nerve



Advances in diagnostic approaches and outcome measures

Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies 
Rylie M. Hightower and Matthew S. Alexander 

Cardiac involvement in the muscular dystrophies
Nicholas J. Silvestri, Haisam Ismail, Peter Zimetbaum, and Elizabeth M. Raynor

Predictors of early left ventricular systolic dysfunction in duchenne muscular dystrophy patients
Raphael Henrique Déa Cirino, Rosana Herminia Scola, Renata Dal‐Prá Ducci, Ana Cristina Camarozano Wermelinger, Claudia Suemi Kamoi Kay, et. al

Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data
Courtney R. Carlson, Steven A. Moore, and Katherine D. Mathews 

Untangling the complexity of limb‐girdle muscular dystrophies
Teerin Liewluck and Margherita Milone 

Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb‐girdle muscular dystrophy type 2A by muscle magnetic resonance imaging
Xuelin Feng, Sushan Luo, Jing Li, Dongyue Yue, Jianying Xi, et. al

Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural history
Harneet Arora, Rebecca J. Willcocks, Donovan J. Lott, Ann T. Harrington, Claudia R. Senesac, et. al

Body composition and body mass index in Duchenne muscular dystrophy: Role of dietary intake
Mariela Bernabe‐García, Maricela Rodríguez‐Cruz, Salvador Atilano, Oriana del Rocío Cruz‐Guzmán, Tomás Almeida‐Becerril, et. al

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
David Gómez‐Andrés, Jorge Díaz, Francina Munell, Ángel Sánchez‐Montáñez, Irene Pulido‐Valdeolivas, et. al



Animal studies with high clinical relevance

Morphological and functional analyses of skeletal muscles from an immunodeficient animal model of limb‐girdle muscular dystrophy type 2E
Gaia Giovannelli, Giorgia Giacomazzi, Hanne Grosemans, and Maurilio Sampaolesi 

Impaired autophagy correlates with golden retriever muscular dystrophy phenotype
William B. Stoughton, Jianrong, Cindy Balog‐Alvarez, and Joe N. Kornegay