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Acta Neurol Belg 2022 May 26. Epub 2022 May 26.

Physical Medicine and Rehabilitation Department, Marmara University Medical Faculty, Marmara University Pendik Research and Training Hospital Istanbul, Istanbul, Turkey.

Introduction: Patients with Duchenne muscular dystrophy (DMD) have lost their access to on-site rehabilitation due to the COVID-19 pandemic. Telerehabilitation can be a viable approach for these patients to protect their muscle strength and functional status. The aim of this study is to compare telerehabilitation with home-based video exercises. Read More

Pediatr Int 2022 Jan;64(1):e15151

Department of Pediatrics, National Hospital Organization Nagara Medical Center, Gifu, Japan.

Mol Ther Methods Clin Dev 2022 Jun 2;25:491-507. Epub 2022 May 2.

Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

Duchenne muscular dystrophy (DMD) is a muscle wasting disorder caused by mutations in the gene. Restoration of full-length dystrophin protein in skeletal muscle would have therapeutic benefit, but lentivirally mediated delivery of such a large gene has been hindered by lack of tissue specificity, limited transduction, and insufficient transgene expression. To address these problems, we developed a lentiviral vector, which contains a muscle-specific promoter and sequence-optimized full-length dystrophin, to constrain dystrophin expression to differentiated myotubes/myofibers and enhance the transgene expression. Read More

Front Genet 2022 9;13:878806. Epub 2022 May 9.

Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Expanded carrier screening (ECS) has become an increasingly common technique to assess the genetic risks of individuals in the prenatal or preconception period. Unexpected variants unrelated to referral are being increasingly detected in asymptomatic individuals through ECS. In this study, we reported an asymptomatic male with duplication of exons 56-61 in the gene through ECS using whole-exome sequencing (WES), which was also detected in a male patient diagnosed with typical Duchenne muscular dystrophy (DMD). Read More

Adv Ther 2022 May 25. Epub 2022 May 25.

Department of Medical and Surgical Specialties and Dentistry, University of Campania "Luigi Vanvitelli", via De Crecchio, 4, 80138, Naples, Italy.

Introduction: Bone loss is a major issue in patients affected by Duchenne muscular dystrophy (DMD), a rare musculoskeletal disorder, particularly in those treated with glucocorticoids (GCs). We aimed to assess the effectiveness of neridronate in terms of bone mineral density (BMD) changes in this population.

Methods: We retrospectively reviewed the records of patients affected by DMD receiving GCs referred to our outpatient from 2015 to 2020. Read More

Neuromuscul Disord 2022 May 13. Epub 2022 May 13.

Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, G51 4TF, United Kingdom.

Gastrointestinal dysfunction in neuromuscular disease is associated with significant morbidity and mortality. It is often underreported despite its prevalence in this cohort. There are a number of issues reported, with gastrointestinal dysmotility and intestinal pseudo-obstruction carrying a poor outcome. Read More

J Control Release 2022 May 22. Epub 2022 May 22.

Department of Materials Engineering, Graduate School of Engineering, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, 113-8656, Japan. Electronic address:

Muscle-targeted drug delivery is a major challenge in nanomedicine. The extravasation of nanomedicines (or nanoparticles) from the bloodstream into muscle tissues is hindered by the continuous endothelium, the so-called blood-muscle barrier. This study aimed to evaluate the optimal size of macromolecular drugs for extravasation (or passive targeting) into muscle tissues. Read More

Neurol Sci 2022 May 24. Epub 2022 May 24.

Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Introduction: Duchenne muscular dystrophy (DMD) is a devastatingly severe genetic muscle disease characterized by childhood-onset muscle weakness, leading to loss of motor function and premature death due to respiratory and cardiac insufficiency.

Discussion: In the following three and half decades, DMD kept its paradigmatic role in the field of muscle diseases, with first systematic description of disease progression with ad hoc outcome measures and the first attempts at correcting the disease-causing gene defect by several molecular targets. Clinical trials are critical for developing and evaluating new treatments for DMD. Read More

J Clin Neuromuscul Dis 2022 Jun;23(4):231-232

Department of Neurology, University of Missouri, Columbia, MO.

Wellcome Open Res 2021 20;6:354. Epub 2021 Dec 20.

Comparative Neuromuscular Diseases Laboratory, Department of Clinical Science and Services, Royal Veterinary College, London, NW10TU, UK.

Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by mutations in the dystrophin gene. Due to their phenotypic similarity to human patients, large animal models are invaluable tools for pre-clinical trials. The DE50-MD dog is a relatively new model of DMD, and carries a therapeutically-tractable mutation lying within the hotspot for human patients, making it especially valuable. Read More

Neuromuscul Disord 2022 Apr 30. Epub 2022 Apr 30.

Division of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, MS S106-3, 4770 Buford Hwy, Chamblee, GA 30341-3717, United States of America.

Population-based estimates of survival among individuals with Duchenne muscular dystrophy (DMD) living in the United States are lacking. It is also unclear whether the association between glucocorticoid use and all-cause mortality persists in the context of other common treatments (cardiac medication, cough-assist, bilevel positive airway pressure, and scoliosis surgery) observed to delay mortality. Among 526 individuals identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network, the estimated median survival time from birth was 23. Read More

Stem Cell Rev Rep 2022 May 19. Epub 2022 May 19.

Department of Physiology and Biophysics, University of Illinois at Chicago, Chicago, IL, USA.

Duchenne Muscular Dystrophy (DMD) is a lethal disease caused by mutations in dystrophin encoding gene, causing progressive degeneration of cardiac, respiratory, and skeletal muscles leading to premature death due to cardiac and respiratory failure. Currently, there is no cure for DMD. Therefore, novel therapeutic approaches are needed for DMD patients. Read More

Ann Neurol 2022 May 19. Epub 2022 May 19.

Université Paris-Saclay, UVSQ, Inserm, END-ICAP, 78000, Versailles, France.

Objectives: Duchenne muscular dystrophy is associated with various degrees of cognitive impairment and behavioral disturbances. Emotional and memory deficits also constitute reliable outcome measures to assess efficacy of treatments in the mdx mouse lacking the muscle and neuronal full-length dystrophins. The present study aims at evaluating whether these deficits could be alleviated by the restoration of brain dystrophin. Read More

Blood Adv 2022 May 18. Epub 2022 May 18.

Université de Nantes, France.

Adeno-Associated Virus (AAV) gene therapies are highly promising, such as the onasemnogene abeparvovec (Zolgensma®) in Spinal Muscle Atrophy (SMA). We report the first case of fatal systemic Thrombotic MicroAngiopathy (TMA) following onasemnogene abeparvovec in a 6-month-old child with SMA type 1, carrying a potential genetic predisposition in the Complement Factor I gene. Other cases of TMA have recently been reported after onasemnogene abeparvovec, and after AAV9 minidystrophin therapy in the Duchenne muscular dystrophy. Read More

Osteoporos Int 2022 May 18. Epub 2022 May 18.

Paediatric Orthopaedics, Department of Trauma, Orthopaedic and Plastic Surgery, University Medical Center Goettingen, 37075, Goettingen, Germany.

Duchenne muscular dystrophy is a progressive disease usually associated with loss of ambulation and progressive scoliosis. Immobilisation and glucocorticoid treatment are predisposing factors for reduced bone mineral density (BMD). Analysis of quantitative computed tomography revealed low BMD in thoracic and lumbar vertebrae in comparison to age- and sex-matched healthy controls. Read More

Trends Pharmacol Sci 2022 May 14. Epub 2022 May 14.

University of Connecticut, 69 N Eagleville Rd., Storrs, CT, USA. Electronic address:

ESC Heart Fail 2022 May 17. Epub 2022 May 17.

Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.

Aims: Despite advances in contemporary cardiopulmonary therapies, cardiomyopathy remains the leading cause of death in patients with Duchenne muscular dystrophy (DMD). Also, the long-term clinical outcomes of patients with DMD and cardiomyopathy is unknown. This study investigated long-term clinical outcomes and their associated factors in patients with late-stage DMD. Read More

Cells 2022 Apr 22;11(9). Epub 2022 Apr 22.

Department of Physiology and Cell Biology, Davis Heart and Lung Research Institute, The Ohio State University, Columbus, OH 43210, USA.

Duchenne muscular dystrophy (DMD) is a common X-linked degenerative muscle disorder that involves mutations in the DMD gene that frequently reduce the expression of the dystrophin protein, compromising the structural integrity of the sarcolemmal membrane and leaving it vulnerable to injury during cycles of muscle contraction and relaxation. This results in an increased frequency of sarcolemma disruptions that can compromise the barrier function of the membrane and lead to death of the myocyte. Sarcolemmal membrane repair processes can potentially compensate for increased membrane disruptions in DMD myocytes. Read More

Int J Mol Sci 2022 Apr 27;23(9). Epub 2022 Apr 27.

Department of Physiology, School of Medicine, University of Patras, 26504 Patras, Greece.

Gene therapy is a revolutionary, cutting-edge approach to permanently ameliorate or amend many neuromuscular diseases by targeting their genetic origins. Motor neuron diseases and muscular dystrophies, whose genetic causes are well known, are the frontiers of this research revolution. Several genetic treatments, with diverse mechanisms of action and delivery methods, have been approved during the past decade and have demonstrated remarkable results. Read More

Int J Mol Sci 2022 Apr 27;23(9). Epub 2022 Apr 27.

Laboratory of Cell Biology, Neuroscience and Experimental Myology, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania.

Although they are considered rare disorders, muscular dystrophies have a strong impact on people's health. Increased disease severity with age, frequently accompanied by the loss of ability to walk in some people, and the lack of treatment, have directed the researchers towards the development of more effective therapeutic strategies aimed to improve the quality of life and life expectancy, slow down the progression, and delay the onset or convert a severe phenotype into a milder one. Improved understanding of the complex pathology of these diseases together with the tremendous advances in molecular biology technologies has led to personalized therapeutic procedures. Read More

Int J Mol Sci 2022 Apr 19;23(9). Epub 2022 Apr 19.

Department of Physiological Sciences, Federal University of São Carlos (UFSCar), Rod. Washington Luís, km 235-SP-310-São Carlos, São Paulo 13565-905, Brazil.

Duchenne muscular dystrophy (DMD) is a muscle disease characterized by the absence of the protein dystrophin, which causes a loss of sarcolemma integrity, determining recurrent muscle injuries, decrease in muscle function, and progressive degeneration. Currently, there is a need for therapeutic treatments to improve the quality of life of DMD patients. Here, we investigated the effects of a low-intensity aerobic training (37 sessions) on satellite cells, peroxisome proliferator-activated receptor-gamma coactivator (PGC)-1α protein (PGC-1α), and different types of fibers of the psoas muscle from mice (DMD experimental model). Read More

Neurol Sci 2022 May 13. Epub 2022 May 13.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

Background: Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked muscular disease with an overall incidence of 1:5,000 live male births. Recent availability in treatment for DMD raised the need of early diagnosis, and DMD became as a selective item of newborn screening (NBS) since Feb. 2021 in our center. Read More

Indian J Pathol Microbiol 2022 May;65(Supplement):S259-S270

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India.

Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, and LMNA-related CMD. Read More

Muscle Nerve 2022 May 12. Epub 2022 May 12.

Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital, Queen Square, London.

Front Cardiovasc Med 2022 26;9:763544. Epub 2022 Apr 26.

Cardiovascular Research Institute, Icahn School of Medicine at Mount Sinai, New York, NY, United States.

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration due to dystrophin gene mutations. Patients with DMD initially experience muscle weakness in their limbs during adolescence. With age, patients develop fatal respiratory and cardiac dysfunctions. Read More

Orphanet J Rare Dis 2022 05 12;17(1):194. Epub 2022 May 12.

Division of Cardiology, Texas Tech University Health Sciences Center, Lubbock, TX, 79430, USA.

There are scarce publications regarding the presentation and outcome of Becker muscular dystrophy in adulthood when idiopathic dilated cardiomyopathy is the initial disease manifestation. We performed a systematic review using Medline, Embase, Cochrane, and Scopus to identify cases of adults with idiopathic dilated cardiomyopathy who were subsequently diagnosed with Becker muscular dystrophy from inception through August 2020. Six cases were found. Read More

Free Radic Res 2022 May 12:1-13. Epub 2022 May 12.

Departamento de Biologia Estrutural e Funcional, Instituto de Biologia, Universidade Estadual de Campinas (UNICAMP), Campinas, Brazil.

Background Ca2+ dysregulation and oxidative damage appear to have a central role in Duchenne muscular dystrophy (DMD) progression. The current study provides muscle cell-specific insights into the effect of Tempol on the TRPC 1 channel; on the positive and negative regulators of muscle cell differentiation; on the antioxidant enzymatic system; on the activators of mitochondrial biogenesis; and on the inflammatory process in the dystrophic primary muscle cells in culture.

Methods: myotubes were treated with Tempol (5 mM) for 24 h. Read More

Cardiol Young 2022 May 13:1-6. Epub 2022 May 13.

Heart Institute, Cincinnati Children's Hospital Medical Center Location C, Cincinnati, OH, USA.

Patients with Duchenne muscular dystrophy have multiple risk factors for lower extremity oedema. This study sought to define the frequency and predictors of oedema. Patients aged 15 years and older were screened by patient questionnaire, and the presence of oedema was confirmed by subsequent physical exam. Read More

Front Cell Dev Biol 2022 25;10:877612. Epub 2022 Apr 25.

Research Center for Locomotion Biology, Kobe Gakuin University, Kobe, Japan.

Dystrophin Dp71 is an isoform produced from the Dp71 promoter in intron 62 of the gene, mutations in which cause Duchenne muscular dystrophy. Dp71 is involved in various cellular processes and comprises more than 10 isoforms produced by alternative splicing. Dp71ab, in which both exons 71 and 78 are deleted, has a hydrophobic C-terminus that is hydrophilic in Dp71. Read More

Clin Lab 2022 May;68(5)

Background: Amniocentesis was performed on a pregnant woman with a deletion of exon 45 of the Duchenne Muscular Dystrophy (DMD) gene.

Methods: Fetal Xp21.1 (31944831-32030363) x 0 was found by chromosome microarray analysis (CMA), i. Read More