Screening for Duchenne Muscular Dystrophy Now Available for All Babies Born at the Brigham

The Brigham is the first birth hospital in the nation to develop a program that offers parents an option to have their newborn screened for Duchenne; through early diagnosis, screening may help families take advantage of therapeutic interventions
Source: BWH News - Category: Hospital Management Source Type: news

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Int J Mol Med. 2021 Nov;48(5):203. doi: 10.3892/ijmm.2021.5036. Epub 2021 Sep 22.ABSTRACTCalpains are a family of Ca2+‑dependent cysteine proteases that participate in various cellular processes. Calpain 3 (CAPN3) is a classical calpain with unique N‑terminus and insertion sequence 1 and 2 domains that confer characteristics such as rapid autolysis, Ca2+‑independent activation and Na+ activation of the protease. CAPN3 is the only muscle‑specific calpain that has important roles in the promotion of calcium release from skeletal muscle fibers, calcium uptake of sarcoplasmic reticulum, muscle formation and muscle remo...
Source: International Journal of Molecular Medicine - Category: Molecular Biology Authors: Source Type: research
CONCLUSIONS: Gait, notably speed, step length, and width are clinically significant biomarkers of disease in paediatric NMDs, affording objective functional measures in clinical settings and research.Implications for rehabilitationGait should be considered a functional biomarker of disease in children and young people with neuromuscular disorders (NMDs).Comparison of gait in a paediatric neuromuscular cohort indicates that children with Duchenne muscular dystrophy (DMD) walk slowest with a shorter step length and a wider step width which increases with age and disease progression.Measurement of gait speed is a simple, prag...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Source Type: research
A new class of therapies based on transfer RNA could treat forms of cystic fibrosis, muscular dystrophy, genetic epilepsies, and more
Source: Chemical and Engineering News - Category: Chemistry Authors: Source Type: research
COL6-related dystrophies are a form of congenital muscular dystrophy, ranging in phenotype from the severe Ullrich congenital muscular dystrophy (UCMD) to the milder Bethlem muscular dystrophy with intermediate COL6-RD falling in between. COL6-RDs display well-known patterns on muscle MRI including a "central cloud" and "rimming" in the rectus femoris muscle and an "outside-in" pattern in the vastus lateralis muscle; however, MRI cannot routinely be performed in young children without sedation. We conducted a retrospective review of muscle ultrasound (US) performed in our cohort of genetically...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Collagen VI is an extracellular matrix protein. A common recurrent dominant-negative deep intronic C>T mutation in the COL6A1 gene inserts a 72-nucleotide-long pseudoexon between exons 11 and 12 in 50% of the pathogenic variant's allele transcripts. This mutation causes Ullrich congenital muscular dystrophy with early-onset muscle weakness, joint contractures, and respiratory insufficiency. Using CRISPR/Cas9 technology, we have generated a humanized knock-in mouse model carrying either the human wild type (HumC) or mutant (HumT) alleles to investigate this variant's pathophysiology and to test splice-correction therapies in vivo.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
We present a new phenotype of collagen VI-related disease with predominantly axonal neuropathy.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Mutations in the Col6 genes (COL6A1, COL6A2 and COL6A3) cause a clinically and genetically heterogeneous group of rare diseases (Bethlem myopathy, BM; Ullrich congenital muscular dystrophy, UCMD; intermediate phenotypes), which are collectively known as the COL6-related muscle diseases (COL6-MDs). The Global Registry for COL6-related muscle disease allows secure capture and storage of data from individuals affected with a COL6-MD and from the medical professionals in charge of their care. The primary objectives of the registry are to: contribute to trial readiness of COL6-MDs, allowing identification of genetically well ch...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Collagen 6 congenital muscular dystrophy (Col6-CMD) is a rare disease, which particularly affects the skeletal muscle and connective tissue. The phenotypic spectrum includes Bethlem Myopathy (mild) and Ullrich congenital muscular dystrophy (severe) that are connected by a continuum of intermediate phenotypes. The disease is caused by dominant-negative and recessive mutations in COL6A1, -A2, -A3 and in rare cases by mutations in COL12A1.Collagen VI (COL6) plays an important role in the extracellular matrix (ECM) of skeletal muscle but also in the ECMs of skin, tendon, cartilage, intervertebral discs, lenses, inner organs and blood vessels.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
We present a case of an 11-year-old boy who presented with motor developmental delay and inability to walk. He was born after an uneventful pregnancy and delivery, with non-consanguineous marriage of his parents. Motor milestones were delayed, walking without support at the age of 3.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
We performed exome sequencing panel analysis including 43 genes in a cohort of 87 patients with diagnoses of congenital myopathy (CM), muscular dystrophy, or cardiomyopathy. Congenital myopathies are characterized by generalized muscle hypotonia and weakness of varying severity usually beginning at birth. Myopathies cannot be definitely distinguished from each other nor from other congenital muscle disorders on clinical grounds alone; diagnosis depends on characteristic muscle biopsy findings. Cardiomyopathy can present in varied phenotypes including dilated, hypertrophic, and restrictive patterns.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
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