15,747 results match your criteria: "Becker Muscular Dystrophy"

New drugs for Duchenne muscular dystrophy (DMD) are emerging rapidly. However, we and others believe these drugs are achieving regulatory approval prematurely. It is the cardiorespiratory complications of DMD that cause the disease's major morbidities and that determine survival.

View Article and Find Full Text PDF

Introduction: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder primarily affecting cardiac and skeletal muscles, with gastrointestinal obstruction being an infrequent complication.

Case Report: We present a 17-year-old boy with DMD (G-to-T transversion at c.4150 in the gene encoding dystrophin protein) who developed severe colonic obstruction due to fecal impaction.

View Article and Find Full Text PDF

Intramuscular injection of Wnt7a has been shown to accelerate and augment skeletal muscle regeneration and to ameliorate dystrophic progression in mdx muscle, a model for Duchenne muscular dystrophy (DMD). Here, we assessed muscle regeneration and function in wild type (WT) and mdx mice where Wnt7a was deleted in muscle using a conditional Wnt7a floxed allele and a Myf5-Cre driver. We found that both WT and mdx mice lacking Wnt7a in muscle, exhibited marked deficiencies in muscle regeneration at 21 d following cardiotoxin (CTX) induced injury.

View Article and Find Full Text PDF

Duchenne muscular dystrophy (DMD) is associated with a range of cognitive and behavioral problems. Brain-related comorbidities show clinical heterogeneity depending on the position of the mutation within the multi-promoter dystrophin (DMD) gene, likely due to the differential impact of mutations on the expression of distinct brain dystrophins. A deficiency of the full-length brain dystrophin, Dp427, has been associated with enhanced stress reactivity, characterized by abnormal fear responses in both patients and mdx mouse model.

View Article and Find Full Text PDF

Aim: To evaluate the psychometric properties and measurement quality of the Patient-Reported Outcomes Measurement Information System Parent Proxy (PROMIS PP) Mobility item bank (v1.0, 23 items) for children with Duchenne muscular dystrophy (DMD), through Rasch statistical analysis.

Method: De-identified PROMIS PP Mobility items were completed by the caregivers of male patients with DMD, aged 4 to 12 years, as part of standard clinical care at the Nationwide Children's Hospital clinic; data were mined retrospectively from electronic health records.

View Article and Find Full Text PDF

For years, the treatment of many cardiomyopathies has been solely focused on symptom management. However, cardiomyopathies have a genetic substrate, and directing therapy towards the pathophysiology rather than the epiphenomenon of the disease may be a winning strategy. Gene therapy involves the insertion of genes or the modification of existing ones and their regulatory elements through strategies like gene replacement and gene editing.

View Article and Find Full Text PDF

In boys with Duchenne muscular dystrophy (DMD), cardiomyopathy has become the primary cause of death. Although both positive late gadolinium enhancement (LGE) and reduced left ventricular ejection fraction (LVEF) are late findings in a DMD cohort, LV end-systolic circumferential strain at middle wall (E) serves as a biomarker for detecting early impairment in cardiac function associated with DMD. However, E derived from cine Displacement Encoding with Stimulated Echoes (DENSE) has not been quantified in boys with DMD.

View Article and Find Full Text PDF

Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide survey investigating the prevalence, age distribution, and functional status of Duchenne muscular dystrophyin Italy.

Methods: The survey was performed by collecting data from all 31 reference centers for Duchenne muscular dystrophy in Italy using a structured form.

View Article and Find Full Text PDF

Objective: To compare the progression of muscle fibrosis of various site and its relation between cardiac deterioration in Duchenne muscular dystrophy (DMD). In this study aimed to examine the associations between echocardiogram-based cardiac function indices and fibrosis of the abdominal and lower extremity muscles in patients with DMD to facilitate early detection of cardiac dysfunction and identify its predictors.

Methods: Twenty-one patients with DMD patients were enrolled in the study.

View Article and Find Full Text PDF

Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.

J Genet Eng Biotechnol

December 2024

Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Egypt. Electronic address:

Duchenne muscular dystrophy (DMD/BMD) is the most common type of muscular dystrophy, together with Becker muscular dystrophy represent more than half of all cases. DMD is a single-gene, X-linked recessive disorder that predominantly affects boys, causing progressive muscle deterioration and eventually leading to fatal cardiopulmonary complications. This study aimed to implement a cost-effective molecular diagnostic method using the SALSA MLPA Kit (probe mixes 034 and 035) to screen a large group of Egyptian DMD patients.

View Article and Find Full Text PDF

Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: Findings from an Argentine patient cohort.

Eur J Paediatr Neurol

December 2024

Laboratorio de Distrofinopatías, Cátedra de Genética, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Buenos Aires, Argentina; Instituto de Inmunología, Genética y Metabolismo (INIGEM), CONICET - Universidad de Buenos Aires, Buenos Aires, Argentina. Electronic address:

A wide phenotypic spectrum exists among DMD patients, with genetic modifiers seen as a putative cause of this variability. The main aim was to evaluate the effect of 4 genetic modifiers and the location of DMD variants on disease severity in a DMD Argentine cohort. A secondary objective was to provide a summary of the current state of knowledge and association of the tested loci with DMD's phenotype.

View Article and Find Full Text PDF

Dystrophin is a protein crucial for maintaining the structural integrity of skeletal muscle. So far, the attention was focused on the role of dystrophin in muscle in view of the devastating progression of weakness and early death that characterises Duchenne muscular dystrophy. However, in the last few years, the role of shorter dystrophin isoforms, including development and adult expression-specific mechanisms, has been a greater focus.

View Article and Find Full Text PDF

Aims: The aim of this study was to conduct a bibliometric analysis of the relevant literature on Duchenne muscular dystrophy (DMD) to ascertain its current status, identify key areas of research and demonstrate the evolution of the field.

Methods: The analysis sourced documents from the Science Citation Index Expanded in the Web of Science core collection, utilizing CiteSpace software and an online bibliometric platform to analyze collaborative networks among authors, institutions and countries, and to map out the research landscape through journal and reference evaluations. Keyword analyses, including clustering and emergent term identification, were conducted, alongside the development of knowledge maps.

View Article and Find Full Text PDF

Duchenne muscular dystrophy (DMD) is a progressive, fatal muscle wasting disease caused by X-linked mutations in the dystrophin gene. Alongside the characteristic muscle weakness, patients face a myriad of skeletal complications, including osteoporosis/osteopenia, high susceptibility to vertebral and long bone fractures, fat embolism post-fracture, scoliosis, and growth retardation. Those skeletal abnormalities significantly compromise quality of life and are sometimes life-threatening.

View Article and Find Full Text PDF

Native DGC structure rationalizes muscular dystrophy-causing mutations.

Nature

December 2024

Department of Microbiology, Immunology and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA, USA.

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder marked by progressive muscle wasting leading to premature mortality. Discovery of the DMD gene encoding dystrophin both revealed the cause of DMD and helped identify a family of at least ten dystrophin-associated proteins at the muscle cell membrane, collectively forming the dystrophin-glycoprotein complex (DGC). The DGC links the extracellular matrix to the cytoskeleton, but, despite its importance, its molecular architecture has remained elusive.

View Article and Find Full Text PDF

Background: Pathogenic variants in the gene are associated with dystrophinopathy including Duchenne and Becker muscular dystrophy (DMD/BMD). Targeted gene, gene panels, exomes and genome sequencing have advanced genetic diagnostics, yet some cases remain elusive.

Methods: We performed total RNA sequencing (RNAseq) on muscle biopsy from 13 male patients with a clinical diagnosis of DMD/BMD.

View Article and Find Full Text PDF

Validity and Reliability of the 6-min Pegboard and Ring Test in Patients With Duchenne Muscular Dystrophy.

Muscle Nerve

December 2024

Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Gaziantep University, Gaziantep, Turkey.

Introduction/aims: Tests for assessing upper extremity (UE) functional capacity in patients with Duchenne muscular dystrophy (DMD) are limited. This study aimed to evaluate the validity and reliability of the 6-min pegboard and ring test (6PBRT) as a practical tool for this purpose.

Methods: Children with DMD (n = 22) were evaluated using the 6PBRT for UE functional capacity, the Quick Disabilities of the Arm, Shoulder, and Hand (Q-DASH) for functionality, the Pediatric Quality of Life Inventory (PedsQL) for quality of life, and a dynamometer for handgrip strength and UE muscle strength.

View Article and Find Full Text PDF

Duchenne Muscular Dystrophy: Call to Action.

Indian Pediatr

December 2024

Pediatric Neurologist and Medical Director of Tic and Tourette Program, Barrow Neurological Institute,  Phoenix Children's Hospital, Phoenix, Arizona, United States of America.

View Article and Find Full Text PDF

Duchenne Muscular Dystrophy - Renewed Enthusiasm as We Enter the Era of Therapeutics!

Indian Pediatr

December 2024

Senior Consultant and Vice Chairperson, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi

View Article and Find Full Text PDF

Methylphenidate treatment of a Chinese boy with Becker muscular dystrophy combined with attention deficit hyperactivity disorder: a case report.

Front Neurosci

November 2024

Department of Pediatrics, West China Second University Hospital, Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education (MOE), Chengdu, Sichuan, China.

Background: Becker muscular dystrophy (BMD) is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis, caused by mutations in the DMD gene, which encodes dystrophin protein. Different from Duchenne Muscular Dystrophy (DMD), in which dystrophin is completely absent in muscle tissue, while in BMD, the dystrophin gene can express some protein, but not enough. It has also been shown that a proportion of patients with DMD suffer from attention deficit hyperactivity disorder (ADHD), and the use of the stimulant methylphenidate has been suggested for the treatment of patients with DMD in combination with ADHD.

View Article and Find Full Text PDF

Duchenne muscular dystrophy is the most common inherited neuromuscular disease in children. In addition to the progressive loss of motor skills and cardiac involvement, respiratory muscle weakness leads to a restrictive lung disease and cough insufficiency. Specific respiratory interventions have significantly improved survival and quality of life of the affected boys.

View Article and Find Full Text PDF

Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration, primarily affecting young males. In this study, we investigated arginine-modified hydroxyapatite nanoparticles (R-HAp) as a novel non-viral vector for DMD gene therapy, particularly for delivering the large 18.8 kb dystrophin gene.

View Article and Find Full Text PDF