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

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.

Unveiling non-coding variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis.

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.

Hereditary Neuromuscular Disorders in Reproductive Medicine.

Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients' quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot-Marie-Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb-Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn.

Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy.

Objective: Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS). We used the optical genome mapping (OGM) technology to detect and analyze uncommon mutations or structural variations (SVs) within the DMD gene, thus contributing to more precise clinical diagnoses.

Methods: We herein included eight patients with dystrophinopathy (six males and two females) in whom pathogenic variants of the DMD gene could not be accurately identified using MLPA and NGS.

The BELS questionnaire: A novel screening tool for neurodevelopmental and psychiatric symptoms in pediatric dystrophinopathy.

Introduction/aims: Pediatric patients with dystrophinopathies [Becker and Duchenne muscular dystrophy (BDMD)] are more likely to have neurodevelopmental and neuropsychiatric conditions. This prospective pilot study tested a novel screening questionnaire developed to identify the common behavioral (B), emotional (E), learning (L), and social (S) difficulties in BDMD.

Methods: A total of 45 caregivers of BDMD patients (ages 4-19 years) seen at the Arkansas Children's Hospital Dystrophinopathy Clinic completed the BELS questionnaire during standard clinic visits.

Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants.

Pregestational population screening of healthy females for copy number variants in DMD gene has raised numerous challenges regarding the interpretation and disclosure of these findings. Our objective was to analyze data from a local dystrophinopathy patient database, in comparison to population screening results. Utilizing the "Little steps" association registry for children with dystrophinopathy, we classified genetic findings (out-of-frame, in-frame, or difficult-to-predict) in 231 DMD and 90 BMD male patients.

Urinary titin reflects the severity of walking ability, muscle strength, and muscle and cardiac damage in patients with Becker muscular dystrophy.

Background: Becker muscular dystrophy (BMD) is a dystrophinopathy caused by a pathological variant of the DMD gene. Urinary titin, a degradation product of the giant protein titin present in muscle sarcomeres, has been used as a biomarker to reflect muscle degradation in Duchenne muscular dystrophy, a more severe dystrophinopathy. However, the clinical significance of urinary titin levels in BMD remains unclear.

Biophysical characterization of the dystrophin C-terminal domain: Dystrophin interacts differentially with dystrobrevin isoforms.

Duchenne muscular dystrophy (DMD) gene encodes dystrophin, a large multidomain protein. Its nonfunctionality leads to dystrophinopathies like DMD and Becker muscular dystrophy, for which no cure is yet available. A few therapies targeted towards specific mutations can extend the lifespan of patients, although with limited efficacy and high costs, emphasizing the need for more general treatments.

Photobiomodulation Therapy Effects at Different Stages of the Dystrophic Phenotype: A Histomorphometric Study.

Objective: The purpose of this study was to evaluate the effects of photobiomodulation therapy (PBMT) on the gastrocnemius muscle of X-linked muscular dystrophy (mdx) mice.

Methods: The study used an experimental model of Duchenne muscular dystrophy, at 3 stages of degeneration/regeneration of muscle fibers: an acute stage (14-28 days old), acute and stabilized stages (14-42 days old), and a stabilized stage (28-42 days old). Photobiomodulation therapy (also known as low-level light therapy) at 0.

Early diagnosis of Duchenne muscular dystrophy - A Treat-NMD international workshop.

The diagnosis of Duchenne muscular dystrophy (DMD) is significant at any stage, however an early diagnosis in a presymptomatic or very early phase of DMD, offers unique opportunities and challenges for families and health care providers. Currently, there is limited evidence as to the optimal models of care during this stage of the condition..

Exonisation of an intronic L1 element in the dystrophin gene associated with X-linked muscular dystrophy in a Border Collie dog.

X-linked recessive dystrophinopathies are the most common muscular dystrophies (MDs) in humans and dogs. To date, 20 breed-specific MD-associated variants are described in the canine dystrophin gene (DMD), including one associated with dystrophin-deficient MD in the Border Collie mixed breed. Here, we report the diagnosis and follow-up of mild dystrophin-deficient MD in a 5-month-old male Border Collie, associated with a novel DMD variant.