Muscular Dystrophies (Muscular Dystrophy)

A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.

Also Known As:

Networked: 5779 relevant articles (196 outcomes, 488 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
2.	Muscular Diseases (Myopathy)
3.	Cardiomyopathies (Cardiomyopathy)
4.	Heart Failure
5.	Muscular Atrophy (Muscle Atrophy)

Experts

1.	Muntoni, Francesco: 69 articles (01/2022 - 03/2002)
2.	McNally, Elizabeth M: 56 articles (01/2022 - 01/2002)
3.	Takeda, Shin'ichi: 47 articles (11/2021 - 03/2002)
4.	Campbell, Kevin P: 46 articles (01/2022 - 06/2002)
5.	Ohlendieck, Kay: 42 articles (02/2022 - 02/2002)
6.	Toda, Tatsushi: 39 articles (01/2022 - 03/2002)
7.	Endo, Tamao: 34 articles (01/2022 - 03/2002)
8.	Straub, Volker: 34 articles (01/2022 - 03/2002)
9.	Nishino, Ichizo: 32 articles (01/2022 - 03/2002)
10.	Kornegay, Joe N: 30 articles (01/2021 - 12/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Muscular Dystrophies:

1.	DystrophinIBA 01/01/2017 - "Here we show that locoregional and systemic delivery of a rAAV2/8 vector expressing a canine microdystrophin (cMD1) is effective in restoring dystrophin expression and stabilizing clinical symptoms in studies performed on a total of 12 treated golden retriever muscular dystrophy (GRMD) dogs. " 01/04/2008 - "A cure for dystrophin-deficient muscular dystrophy requires treating both skeletal muscle and the heart. " 07/01/2003 - "Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice." 02/01/1998 - "Elucidating the mechanisms leading to cell death may help to explain the variabilities in disease expression that are seen as a function of age, among different muscles, and across species in animals with muscular dystrophy due to dystrophin deficiency." 10/08/2020 - "This study revealed a spontaneous partial deletion in DMD gene in a Jack Russell Terrier showing a Duchenne-type muscular dystrophy due to non-functional dystrophin."
2.	Proteins (Proteins, Gene)FDA Link 01/01/2014 - "The occurrence of muscular dystrophy-related protein species in biofluids will be extremely helpful for the future development of cost-effective and non-invasive diagnostic procedures. " 09/01/2009 - "With the discovery and cloning of cytoskeleton proteins and intermediate filaments in the muscle fiber membrane, the sarcoplasm and the nucleus which are essential for the normal muscle fiber function, the classification of muscular dystrophies has dramatically improved. " 10/01/2000 - "As more light is being shed on the genes and proteins involved in muscular dystrophy, diagnosis of patients has improved enormously. " 06/01/2021 - "Although >30 years have passed since the identification of the first protein involved in a type of muscular dystrophy, there is no effective treatment for these disabling disorders. " 01/01/1997 - "These discoveries will provide the basis both for improved understanding of physiology of this complex of proteins at the muscle membrane and for new strategies in the treatment of muscular dystrophy."
3.	Laminin (Merosin)IBA 05/03/2016 - "These data support a critical role of laminin in the regulation of PDGFRβ(+) cell stemness, identify an innovative target for future drug development and may provide an effective treatment for muscular dystrophy. " 01/01/2021 - "In this study, we defined the molecular consideration of three patients with laminin α2 deficiency by clinical presentations of congenital muscular dystrophy. " 01/01/2020 - "The research on laminin α2 chain-deficient congenital muscular dystrophy (LAMA2-CMD) advanced rapidly in the last few decades, largely due to availability of good mouse models for the disease and a strong interest in preclinical studies from scientists all over the world. " 10/09/2018 - "In this study, we applied next-generation sequencing-based copy number variation profiling in 114 individuals clinically diagnosed with laminin α2-related muscular dystrophy, including 96 who harboured LAMA2 mutations and 34 who harboured intragenic rearrangements. " 01/01/2017 - "In this study, we elaborated on two cases with laminin α2 related congenital muscular dystrophy who had occipital cortex dysgenesis in addition to characteristic white matter abnormalities. "
4.	MyostatinIBA 10/01/2020 - "Recent terminations of clinical trials of myostatin inhibitors in muscular dystrophy have raised questions about the predictiveness of mouse models for this therapeutic strategy. " 01/01/2009 - "Further studies of myostatin inhibition as a treatment for muscular dystrophy are warranted, and single muscle fiber contractile studies are a useful assay for muscle function at the cellular level." 02/15/2005 - "Previous studies in the mdx mouse model of muscular dystrophy demonstrate that inhibiting myostatin attenuates several features of dystrophic muscle. " 07/26/2023 - "Myostatin, an important negative regulator of muscle mass, is a therapeutic target for muscle atrophic disorders such as muscular dystrophy. " 02/22/2023 - "Inhibition of myostatin is an attractive strategy for the treatment of muscular atrophic diseases such as muscular dystrophy. "
5.	Sarcoglycans (beta Sarcoglycan)IBA 01/01/2016 - "Studies have demonstrated that introduction of the γ-sarcoglycan-null allele onto the DBA/2J background confers a more severe muscular dystrophy phenotype than the original strain, demonstrating the presence of genetic modifier loci in the DBA/2J background. " 01/01/2011 - "The delta-sarcoglycan-deficient hamster is an excellent model to study muscular dystrophy. " 06/01/2000 - "The results demonstrate that satellite cells can be isolated from the hamster and may provide a useful tool to study muscular dystrophies associated with defects in the sarcoglycan complex and the involvement of sarcoglycans in normal skeletal muscle growth and development." 04/25/1998 - "Linkage studies have confirmed the existence of clinical an genetic heterogeneity among the muscular dystrophies due to adhalin deficiency. " 01/01/2022 - "Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy."
6.	CreatineIBA 05/09/2000 - "The authors assessed the safety and efficacy of creatine monohydrate (Cr) in various types of muscular dystrophies in a double-blind, crossover trial. " 06/05/2013 - "-analysis of six trials in muscular dystrophies including 192 participants revealed a significant increase in muscle strength in the creatine group compared to placebo, with a mean difference of 8.47%; (95% confidence intervals (CI) 3.55 to 13.38). " 02/16/2011 - "Meta-analysis of six trials in muscular dystrophies including 192 participants revealed a significant increase in muscle strength in the creatine group compared to placebo, with a weighted mean difference of 8.47%; (95% confidence intervals (CI) 3.55 to 13.38). " 01/24/2007 - "In trials with 138 participants with muscular dystrophies treated with creatine, there was a significant increase in maximum voluntary contraction in the creatine group compared to placebo, with a weighted mean difference of 8.47% (95% confidence intervals 3.55 to 13.38). " 10/01/2004 - "To investigate the effects of creatine monohydrate on muscle performance and cognitive functions in muscular dystrophy patients, we made an open trial. "
7.	Dystroglycans (Dystroglycan)IBA 08/20/2019 - "Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study." 08/01/2010 - "This study was aimed to identify Fukutin (FKTN)-related congenital muscular dystrophies (CMD) with defective alpha-dystroglycan glycosylation in Korea and to discuss their genotype-phenotype spectrum focusing on detailed brain magnetic resonance imaging (MRI) findings. " 03/01/2010 - "Recent studies highlighted an emerging possibility of using Drosophila as a model system for investigating the mechanisms of human congenital muscular dystrophies, called dystroglycanopathies, resulting from the abnormal glycosylation of alpha-dystroglycan. " 05/26/2009 - "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study." 12/01/2008 - "Recent studies have identified a number of forms of muscular dystrophy, termed dystroglycanopathies, which are associated with loss of natively glycosylated alpha-dystroglycan. "
8.	DNA (Deoxyribonucleic Acid)IBA 11/01/2002 - "Hence ultrasound may provide a safe and effective method for enhancing gene transfer to dystrophic muscles, thereby increasing the prospects for therapeutic application of naked DNA in muscular dystrophy patients." 01/01/2012 - "Muscle biopsies are useful for histopathologic and immunolabeling studies, and DNA analysis is the gold standard to establish the specific form of muscular dystrophy. " 07/01/2001 - "Given its efficacy for naked DNA transfer in these models of muscular dystrophies, and despite some limitations, gene electrotransfer methodology should be further explored as a potential avenue for treatment of muscular dystrophies." 01/01/2014 - "The present study has demonstrated that both examination of muscle biopsy specimens and DNA analysis remain important methods in the differential diagnosis of muscular dystrophies. " 05/01/1988 - "The indirect approach to carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophies based on the study of DNA polymorphisms closely linked to this gene has been followed by five Italian laboratories in the study of 106 pedigrees. "
9.	DysferlinIBA 06/01/2013 - "By subjecting dysferlin-deficient B6.A/J-Dysf(prmd) mice to long-term swimming exercise, we observed that concentric/isometric strain improved muscle strength and alleviated muscular dystrophy by limiting the accumulation of membrane lesions. " 10/19/2007 - "Recent studies have shown that mutation or genetic disruption of myoferlin or dysferlin promotes muscular dystrophy-related phenotypes in mice, which are the result of impaired plasma membrane integrity. " 01/01/2023 - "Muscular dystrophy is observed in humans when mutations disrupt this repair process or dysferlin is absent. " 10/01/2022 - "Thermoneutral Housing and a Western Diet Combination Exacerbates Dysferlin-Deficient Muscular Dystrophy." 07/19/2021 - "Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF). "
10.	Therapeutic UsesIBA 09/01/2013 - "The therapeutic use of mt permeability transition pore modifiers holds promise in various neuromuscular disorders, including muscular dystrophies. " 10/01/2020 - "DMD induced pluripotent stem cells (iPSCs) are a suitable cell model to study muscle development and disease mechanisms underlying muscular dystrophy and to screen novel compounds with potential therapeutic effects. " 04/01/2008 - "The capacity to ameliorate the pathology in an animal model of advanced-stage muscular dystrophy suggests that interventions ultimately proven to exert a therapeutic effect in young patients may offer benefits to older patients or those with advanced conditions of progressive muscular dystrophy." 01/01/2007 - "Evaluation of the potential therapeutic use of immature stem cells in a canine model for Duchene muscular dystrophy." 07/01/2003 - "In order to examine the possible participation of dystrypsin in the occurrence of the disease, we investigated the therapeutic effects of dystrypsin inhibitors on the occurrence and progress of muscular dystrophy. "

Therapies and Procedures

1.	Therapeutics 01/01/2014 - "The progressive loss of muscle mass characteristic of many muscular dystrophies impairs the efficacy of most of the gene and molecular therapies currently being pursued for the treatment of those disorders. " 10/28/2021 - "Our data suggest that adjunctive therapy with CHM may help to reduce the overall mortality among patients with muscular dystrophies. " 01/01/2019 - "CRISPR editing of muscle stem cells (MuSCs) with adeno-associated virus serotype-9 (AAV9) holds promise for sustained gene repair therapy for muscular dystrophies. " 04/01/2014 - "These findings reveal an additional effect of NO in dystrophic muscle that conceivably synergizes with its known effects on regeneration improvement and explain why NO-based therapies appear effective in the treatment of muscular dystrophy." 08/01/2012 - "Furthermore, we shall outline the impact of an improved understanding of muscle stem cells within their environment, and of satellite cells in particular, on efficient stem cell replacement therapies for muscular dystrophies, putting embryological findings and stem cell approaches into context."
2.	Transplantation 01/01/2013 - "Studies in mice showed tremendous promise for the eventual clinical utility of myoblast transplantation to treat human muscular dystrophies. " 10/09/2021 - "Transplantation of myogenic stem cells holds great promise for treating muscular dystrophies. " 04/01/2021 - "Our previous studies have shown that transplantation with allogeneic myogenic progenitor-derived exosomes (MPC-Exo) can improve cardiac function in X-linked muscular dystrophy (Mdx) mice. " 01/01/2016 - "This study, hence, also opens the possibilities of using unipotent aged MDSCs as potential candidates for transplantation in patients with muscular dystrophies. " 01/01/2010 - "Proposed treatments for muscular dystrophy, some in clinical trials, include gene therapy and muscle cell transplantation. "
3.	Cell- and Tissue-Based Therapy (Cell Therapy) 01/01/2013 - "A clinical study shows safety and efficacy of autologous bone marrow mononuclear cell therapy to improve quality of life in muscular dystrophy patients." 10/01/2010 - "Modulation of MMP-9 expression opens perspectives for improved efficacy of cell therapy for muscular dystrophies." 05/31/2022 - "This research lays a theoretical foundation and an exploratory practice for large-scale cell cultures and provides a study reference for the microenvironment of myoblast culture in vitro, a feasible direction for the cell therapy of muscular dystrophy, and prerequisites for the industrialized manufacturing of cell-based meat. " 10/01/2016 - "Furthermore, their ability to cross the vascular wall and to reconstitute skeletal muscle tissue after systemic injection opened the way to a number of studies aimed to develop therapeutic protocols for a cell therapy of muscular dystrophy. " 10/01/2014 - "These stem cell-derived myogenic cells provide new avenues for the study of muscle-related diseases, drug screening and are potentially a new tool for cell therapy against muscular dystrophies. "
4.	Oral Administration 06/01/2012 - "Oral administration of 180 mg/kg/day EGCG in the diet was found the most effective for significantly improving several parameters associated with muscular dystrophy. " 07/01/2014 - "Chronic oral administration of Ang-(1-7) improves skeletal muscle, autonomic and locomotor phenotypes in muscular dystrophy." 01/01/2019 - "Objective: A 24 weeks randomized double-blind placebo-controlled clinical study was aimed at evaluating the safety and efficacy of daily oral administration of flavonoids- and omega3-based natural supplement (FLAVOMEGA) in patients affected by muscular dystrophy with recognized muscle inflammation. " 07/01/1985 - "A double-blind and open crossover trial on the oral administration of coenzyme Q10 (CoQ10) to 12 patients with progressive muscular dystrophies and neurogenic atrophies was conducted. "
5.	Intravenous Infusions 11/29/2022 - "Correction: Two-dimensional speckle tracking echocardiography demonstrates improved myocardial function after intravenous infusion of bone marrow mesenchymal stem in the X-Linked muscular dystrophy mice." 11/03/2022 - "Two-dimensional speckle tracking echocardiography demonstrates improved myocardial function after intravenous infusion of bone marrow mesenchymal stem in the X-Linked muscular dystrophy mice."