At What Age Is Muscular Dystrophy Diagnosed
At What Age Is Muscular Dystrophy Diagnosed?
A new class of therapies based on transfer RNA could treat forms of cystic fibrosis, muscular dystrophy, genetic epilepsies, and more
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...
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.
We present a new phenotype of collagen VI-related disease with predominantly axonal neuropathy.
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...
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.
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.
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.
Assessment of the change in the trend of weight gain in children affected by DMD during the first twelve months of the coronavirus pandemic in one paediatric neuromuscular centre. We noted that a number of children affected by Duchenne muscular dystrophy appeared to have had significantly accelerated weight gain during the first year of the pandemic; potentially greater than weight gain in previous years and that expected for age. To evaluate this, the body mass index BMI change and centiles during this year will be compared to that in the two years preceding the pandemic for each patient.
Our objective is to describe two genetically confirmed Oculopharyngeal Muscular Dystrophy (OPMD) patients with HMGCoARdase-antibody positive autoimmune necrotic myopathy (AINM) responsive to immunosuppressive treatment. Although clinicians have suspected muscular dystrophy patients are at increased risk of statin side-effects, to date no patients with genetically confirmed muscular dystrophy have been reported with HMGCoRdase-antibody positive AINM. Here we describe the clinical presentation, serology, muscle pathology and response to treatment in two patients with genetically confirmed OPMD who developed statin-associated AINM.