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: 3906 relevant articles (111 outcomes, 311 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Muscular Diseases (Myopathy)
2.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
3.	Muscular Dystrophies (Muscular Dystrophy)
4.	Sarcopenia
5.	Neoplasms (Cancer)

Experts

1.	Muntoni, Francesco: 45 articles (01/2016 - 04/2002)
2.	Campbell, Kevin P: 35 articles (12/2015 - 06/2002)
3.	McNally, Elizabeth M: 35 articles (10/2015 - 01/2002)
4.	Takeda, Shin'ichi: 30 articles (01/2015 - 03/2002)
5.	Toda, Tatsushi: 27 articles (01/2015 - 03/2002)
6.	Moore, Steven A: 21 articles (12/2015 - 07/2002)
7.	Martin, Paul T: 21 articles (10/2015 - 04/2002)
8.	Nishino, Ichizo: 21 articles (10/2013 - 03/2002)
9.	Muntoni, F: 20 articles (08/2012 - 01/2000)
10.	Voit, Thomas: 19 articles (09/2015 - 03/2002)

Drugs and Biologics

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

1.	DystrophinIBA 07/15/2014 - "The dnOrai1 transgene also significantly reduced the severity of muscular dystrophy in both mdx (dystrophin mutant mice) and δ-sarcoglycan-deficient (Sgcd(-/-)) mouse models of disease. " 11/03/2008 - "We show that sarcospan (SSPN), a unique tetraspanin-like component of the DGC, ameliorates muscular dystrophy in dystrophin-deficient mdx mice. " 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."
2.	Proteins (Proteins, Gene)IBA 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. " 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." 06/09/2015 - "Levels of 1,125 proteins were quantified in serum samples from two independent DMD cohorts: cohort 1 (The Parent Project Muscular Dystrophy-Cincinnati Children's Hospital Medical Center), 42 patients with DMD and 28 age-matched normal volunteers; and cohort 2 (The Cooperative International Neuromuscular Research Group, Duchenne Natural History Study), 51 patients with DMD and 17 age-matched normal volunteers. " 07/01/2013 - "Implicated in several other pathologies, like cardiac dys-functioning, muscular dystrophies, diabetes, etc., these proteins provide a lot of scope for further studies. "
3.	Laminin (Merosin)IBA 09/01/2014 - "In this study, we generated transgenic mice that overexpress LARGE (LARGE Tg) and crossed them with dy(2J) mice and fukutin conditional knockout mice, a model for laminin α2-deficient congenital muscular dystrophy (MDC1A) and FCMD, respectively. " 03/01/2003 - "This study provides additional evidence that the amount of laminin alpha2 is most critical for the prevention of muscular dystrophy. " 02/01/2003 - "The purpose of this study was to investigate the presence of cardiac involvement in children with merosin-positive congenital muscular dystrophy. " 10/09/2001 - "Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study." 06/01/2000 - "To investigate the relationship between imaging changes and merosin deficiency we undertook a MRI study in the dy/dy mouse, an animal model for this form of human congenital muscular dystrophy. "
4.	MyostatinIBA 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. " 01/01/2015 - "Evaluation of Electrical Impedance as a Biomarker of Myostatin Inhibition in Wild Type and Muscular Dystrophy Mice." 01/01/2014 - "Our results suggest, not only a novel in vivo pharmacological treatment directed specifically at activating the satellite cells, but also a myostatin dependent mechanism that may contribute to the progressive muscle wasting seen in severely affected patients with muscular dystrophy and significant on-going regeneration. " 01/01/2013 - "Strategies to block myostatin signaling pathway have been extensively pursued to increase muscle mass in various disease settings including muscular dystrophy. "
5.	Dystroglycans (Dystroglycan)IBA 03/20/2006 - "We suggest that LNalpha1 chain in part ameliorates the development of LNalpha2 chain deficient muscular dystrophy by retaining the binding sites for integrin alpha7Bbeta1D and alpha-dystroglycan, respectively." 04/01/2013 - "To perform a proof-of-concept study, we selected four patients with congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan. " 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."
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. " 01/01/2013 - "-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). " 01/01/2011 - "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). " 01/01/2007 - "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.	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. "
8.	Prednisone (Sone)FDA LinkGeneric 02/15/1967 - "Enzyme changes following prednisone-induced remission in progressive muscular dystrophy." 08/01/2014 - "This study aimed to evaluate the role of short-term prednisone therapy in improving left ventricular (LV) systolic function, LV mass (LVM), and motor power in cases of muscular dystrophies. " 06/15/1989 - "We conclude from this six-month study that prednisone improves the strength and function of patients with Duchenne's muscular dystrophy. " 06/15/1989 - "We performed a randomized, double-blind, controlled six-month trial of prednisone in 103 boys with Duchenne's muscular dystrophy (age, 5 to 15 years). " 06/15/1989 - "Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy."
9.	Insulin-Like Growth Factor I (IGF-1)IBA 12/01/2002 - "Limited knowledge exists regarding the efficacy of insulin-like growth factor I (IGF-I) administration as a therapeutic intervention for muscular dystrophies, although findings from other muscle pathology models suggest clinical potential. " 09/01/2014 - "Taken together, our findings indicate that the overexpression of LARGE aggravates muscular dystrophy by suppressing the muscle regeneration and this adverse effect is mediated via reduced expression of IGF-1. " 02/01/2013 - "Our results suggest that a combined treatment with IGF-1 and MSCs enhances efficiency of muscle repair and, therefore, should be further considered as a potential therapeutic approach in muscular dystrophies." 04/01/2012 - "These data suggest a therapeutic benefit with PEG-IGF-I treatment only in mild muscle pathologies, since its potential to ameliorate the pathophysiology in models of severe muscular dystrophies was limited. " 04/01/2012 - "Therapeutic potential of PEGylated insulin-like growth factor I for skeletal muscle disease evaluated in two murine models of muscular dystrophy."
10.	Creatine Kinase (Creatine Phosphokinase)IBA 04/16/2002 - "mdx/CT mice have little or no evidence of muscular dystrophy by several standard measures; Serum creatine kinase levels, percentage of centrally located myofiber nuclei, and variance in myofiber diameter in mdx/CT muscles were dramatically reduced compared with mdx mice. " 06/01/1976 - "Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study." 05/01/1965 - "SERUM CREATINE PHOSPHOKINASE MEASUREMENTS IN MUSCULAR DYSTROPHY STUDIES." 01/01/2015 - "Ehd1-heterozygous mice were found to have strikingly elevated serum creatine kinase and smaller myofibers, but did not display findings of muscular dystrophy. " 01/01/2015 - "These pigs recapitulate many of the cardinal features of muscular dystrophy, have elevated serum creatine kinase activity, and preliminarily appear to display altered locomotion. "

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 09/29/2009 - "The double transplantation of BMSC and CB-MSC is convenient, safe and effective in the treatment of progressive muscular dystrophy and can be considered as a new therapy of PMD. " 01/01/2013 - "Studies in mice showed tremendous promise for the eventual clinical utility of myoblast transplantation to treat human muscular dystrophies. " 01/01/2011 - "Results of this study demonstrate that BM MSC have potential value in xenogeneic transplantation therapy for muscular dystrophy." 01/01/2010 - "Proposed treatments for muscular dystrophy, some in clinical trials, include gene therapy and muscle cell transplantation. " 01/01/2015 - "Intra-arterial transplantation of mesoangioblasts proved safe and partially efficacious in preclinical models of muscular dystrophy. "
2.	Tissue 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." 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. " 12/01/2013 - "However, the results indicated important and promising applications of the pulp stem-cells in cell therapy and bioengineering as demonstrated by studies in animal models of muscular dystrophy, Parkison's disease, and lupus erythematosus." 11/01/2006 - "It is indispensable to study molecular basis of muscle stem cells and muscle regeneration to achieve effective stem cell-based cell therapy on muscular dystrophy."
3.	Artificial Respiration (Mechanical Ventilation) 02/01/1998 - "The efficacy of noninvasive mechanical ventilation on nocturnal hypoxaemia in Duchenne's muscular dystrophy." 01/01/2010 - "To study life-experiences of people living with Duchenne's muscular dystrophy (DMD), home mechanical ventilation (HMV) and physical impairment. " 02/01/1992 - "Two hundred seventy-three Muscular Dystrophy Association (MDA) clinic directors and codirectors of 167 of the 220 clinics responded to a survey designed to study patterns of use of mechanical ventilation. " 01/01/2010 - "Living with severe physical impairment, Duchenne's muscular dystrophy and home mechanical ventilation." 12/01/2008 - "Inmaculada Echevarría was a woman with Progressive Muscular Dystrophy who was totally dependent on mechanical ventilation. "
4.	Transplants (Transplant) 01/01/2014 - "Therefore, it is key to study the mechanisms and dynamics that impair the efficacy of cell transplants in order to develop strategies that can ultimately improve the outcome of allogeneic and autologous stem cell therapies, in particular for severe disease such as muscular dystrophies. " 09/01/1992 - "Findings of this study may have new implications for the proposed myoblast transplant or gene transfer therapy, both of which, whilst being possible answers for muscular dystrophy, depend on a sound knowledge of muscle regeneration mechanisms." 10/01/2012 - "However, a single donor muscle biopsy is unlikely to provide enough cells to effectively transplant the muscle mass of a patient affected by muscular dystrophy. " 01/01/2012 - "However, cell transplants into skeletal muscle of patients with muscular dystrophy are limited by donor cell attachment, migration, and survival in the host tissue. " 10/01/2007 - "Therefore, Flk-1(+) AD-MSC transplants may repair muscular dystrophy."
5.	Activities of Daily Living (ADL) 02/01/2006 - "To assess if activities of daily living (ADL), coping and quality of life could be improved in adults with muscular dystrophy through a comprehensive rehabilitation programme. " 11/20/2001 - "The purpose of the present study is to describe the illness experience of persons with muscular dystrophy, their experience of activities of daily living, and whether there are any differences in how different types of muscular dystrophy affect people's lives. " 11/01/1985 - "[The studies of cardiac function according to activities of daily life (ADL) classification in myotonic muscular dystrophy]." 01/01/2013 - "Outcome measures in muscular dystrophies include composite measures of muscle function and gait, as well as Rasch-designed and validated tools to assess disease-related quality of life and activities of daily living. " 09/01/2006 - "The resulting data were analysed to construct a rating scale (the Muscular Dystrophy Functional Rating Scale, MDFRS) that encompassed four unidimensional constructs: mobility, basic activities of daily living, arm function and impairment. "