Muscular dystrophies

Publication date: 30 November–6 December 2019Source: The Lancet, Volume 394, Issue 10213Author(s): Eugenio Mercuri, Carsten G Bönnemann, Francesco MuntoniSummaryMuscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac and respiratory muscle involvement vary greatly. This development and advances in the field of supportive medicine have changed the standard of care, with an overall improvement in the clinical course, survival, and quality of life of affected individuals. The improved understanding of the pathogenesis of these diseases is being used for the development of novel therapies. In the most common form, Duchenne muscular dystrophy, a few personalised therapies have recently achieved conditional approval and many more are at advanced stages of clinical development. In this Seminar, we concentrate on clinical manifestations, molecular pathogenesis, diagnostic strategy, and therapeutic developments for this group of conditions.
Source: The Lancet - Category: General Medicine Source Type: research

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Source: Journal of Shoulder and Elbow Surgery - Category: Orthopaedics Authors: Source Type: research
Dystroglycanopathies are a group of inherited disorders characterized by vast clinical and genetic heterogeneity and caused by abnormal functioning of the ECM receptor dystroglycan (Dg). Remarkably, among many...
Source: BMC Medicine - Category: Internal Medicine Authors: Tags: Research article Source Type: research
The first test to aid in screening newborns for Duchenne muscular dystrophy (DMD) has received FDA authorization for marketing.
Source: JAMA - Category: General Medicine Source Type: research
Jong-Mok LeeAnnals of Indian Academy of Neurology 2020 23(1):123-125
Source: Annals of Indian Academy of Neurology - Category: Neurology Authors: Source Type: research
Several studies on clinical practice for Duchenne muscular dystrophy (DMD) have been conducted in Western countries. However, there have been only a few similar studies in Asia and Oceania. Here, we investigate the steroid therapy-related clinical practice for DMD among the local experts. In 2015, we conducted a DMD expert survey in Asia and Oceania to acquire information regarding patients with DMD and to assess current clinical practice with the cooperation of Asian and Oceanian Myology Centre, a neuromuscular disease research network.
Source: Brain and Development - Category: Neurology Authors: Tags: Original article Source Type: research
ász Csanádi Vígh Bácskay BGP-15 is a new insulin sensitizer drug candidate, which was developed by Hungarian researchers. In recent years, numerous research groups have studied its beneficial effects. It is effective in the treatment of insulin resistance and it has protective effects in Duchenne muscular dystrophy, diastolic dysfunction, tachycardia, heart failure, and atrial fibrillation, and it can alleviate cardiotoxicity. BGP-15 exhibits chemoprotective properties in different cytostatic therapies, and has also proven to be photoprotective. It can additionally have advantageou...
Source: Molecules - Category: Chemistry Authors: Tags: Review Source Type: research
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Source: Journal of Pharmacokinetics and Pharmacodynamics - Category: Drugs & Pharmacology Source Type: research
CONCLUSIONS AND CLINICAL IMPLICATIONS: Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms. PMID: 31956970 [PubMed - as supplied by publisher]
Source: Neurologia i Neurochirurgia Polska - Category: Neurology Authors: Tags: Neurol Neurochir Pol Source Type: research
In this study, we briefly explained the molecular genetics of DMD and a historical overview of DMD gene therapy. We in particular focused on CRISPR/Cas9-mediated therapeutic approaches that used to treat DMD.
Source: Genes and Diseases - Category: Genetics & Stem Cells Source Type: research
Contributors : Aliza B Rubenstein ; Gregory R Smith ; Ulrika Raue ; Frederique Ruf-Zamojski ; Venugopalan Nair ; Lan Zhou ; Elena Zaslavksy ; Scott Trappe ; Stuart SealfonSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensSkeletal muscle is a complex heterogeneous tissue comprised of diverse muscle fiber and non-fiber cell types that, in addition to movement, influences other systems such as immunity, metabolism and cognition. We investigated gene expression patterns of resident human skeletal muscle cells using single-cell RNA-seq of dissections from vastus lateralis. We generate transc...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
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