Imperatives for DUCHENNE MD: a Simplified Guide to Comprehensive Care for Duchenne Muscular Dystrophy
Conclusion
“Imperatives for Duchenne MD” is a very focused and brief snapshot of the essential components of comprehensive DMD care as described in the CDC care considerations. This information is meant for health care providers, but can also be used by patients and parent advocating for comprehensive care for themselves or their children. The document has so far been translated into 18 languages by patient organizations and professional volunteers around the world through the TREAT-NMD Alliance.
More detailed information for each area of care and the care required for each stage of Duchenne, as well as the complet...
Source: PLOS Currents Muscular Dystrophy - August 7, 2015 Category: Neurology Authors: Kathi Kinnett Source Type: research
Correction: A Randomized, Double-Blind Trial of Lisinopril and Losartan for the Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy
Correction
The fourth author was inadvertently left off the original author listing. Laurence Viollet-Callendret has been added to the original article as the fourth author.
Reference
Allen HD, Flanigan KM, Thrush PT, Viollet-Callendret L, Dvorchik I, Yin H, Canter C, Connolly AM, Parrish M, McDonald CM, Braunlin E, Colan SD, Day J, Darras B, Mendell JR. A Randomized, Double-Blind Trial of Lisinopril and Losartan for the Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy. PLOS Currents Muscular Dystrophy. 2013 Dec 12. Edition 1. doi: 10.1371/currents.md.2cc69a1dae4be7dfe2bcb420024ea865.
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Source: PLOS Currents Muscular Dystrophy - March 6, 2015 Category: Neurology Authors: ploscurrents Source Type: research
The FVB Background Does Not Dramatically Alter the Dystrophic Phenotype of Mdx Mice
Discussion
To meet the practical needs of our transgenic studies, we crossed the BL10-background mdx mice with FVB/NJ mice. Recent studies suggest that the so-called “wild type” inbred mice may actually carry various changes in their genome. For example, the commonly used A/J mice were recently show to display progressive muscular dystrophy due to a mutation in the dysferlin gene 24. The FVB strain was also found to carry mutations in several genes of the visual system 25. It is thus important to determine whether the FVB background alters the dystrophic phenotype of the original mdx mice. After seven generations of ba...
Source: PLOS Currents Muscular Dystrophy - February 10, 2015 Category: Neurology Authors: Nalinda B. Wasala Source Type: research
Online Self-Report Data for Duchenne Muscular Dystrophy Confirms Natural History and Can Be Used to Assess for Therapeutic Benefits
CONCLUSION
The data presented here establish DuchenneConnect as a useful framework for further growth in online patient self-report data that is valuable for therapeutic interpretations regarding DMD, and support the more general use of online self-report data for therapeutic interpretation in rare disease. In five years, DuchenneConnect has accumulated the largest DMD cohort with age at full time wheelchair use and treatment information published to date, likely because of the low barrier to participation. Further, with many current registrants passing major milestones, like loss of ambulation, and the ongoing inclusion o...
Source: PLOS Currents Muscular Dystrophy - October 17, 2014 Category: Neurology Authors: richardwang Source Type: research
The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys
Conclusions
In conclusion, our results confirm that upper limb involvement can already be found in DMD boys even in the ambulant phase. The scores on the PUL largely reflect the overall impairment observed on the 6MWT but the correlation was not linear. The use of the PUL appears to be less relevant in the very strong patients with 6MWT above 400 meters, that are often excluded from clinical trials. In patients with lower 6MWT early signs of involvement are not only limited to shoulder involvement but also, in some cases, to the loss of the ability to fully perform some activities in the middle and distal domain. The sever...
Source: PLOS Currents Muscular Dystrophy - October 7, 2014 Category: Neurology Authors: eugeniomercuri Source Type: research
Non-Radioactive Detection of Trinucleotide Repeat Size Variability
Introduction
The expansion of trinucleotide repeat sequences (TNRs) was identified as the causative mutation in more than 20 neurological and neuromuscular disorders, such as Huntington’s disease (HD), myotonic dystrophy type 1 (DM1), fragile X syndrome (FRAXA) and Friedreich’s ataxia (FRDA) 1. Non-affected individuals usually carry <40 repeats. Short repeats are stable in somatic tissues and stably transmitted from one generation to the next. Expanded, disease-associated repeats are usually longer than ~50 repeats, and highly unstable. Repeat instability is commonly expansion-biased, with a pronounced tendency to f...
Source: PLOS Currents Muscular Dystrophy - March 6, 2014 Category: Neurology Authors: Stéphanie Tomé Source Type: research
Identification and Validation of Quantitative PCR Reference Genes Suitable for Normalizing Expression in Normal and Dystrophic Cell Culture Models of Myogenesis
Conclusion
The data presented here suggest Csnk2a2 is a strong candidate for normalizing expression data throughout myogenesis in cell culture, in both healthy and dystrophic models. Ap3d1 also scores highly and would thus serve as a suitable additional reference gene, however for this study we found that Csnk2a2 alone was sufficient. A number of genes appeared to show cell-line specific behaviour: Fbxo38 and Pak1ip1 both score highly in immortomouse lines (2B4, SF1) yet poorly in C2C12, while Zfp91 exhibits the reverse. Similarly, some genes appear to be sensitive to disease-state: Cdc40 scores highly in healthy cells (2B...
Source: PLOS Currents Muscular Dystrophy - March 6, 2014 Category: Neurology Authors: jhildyard Source Type: research
Validity, Reliability, and Sensitivity of a 3D Vision Sensor-based Upper Extremity Reachable Workspace Evaluation in Neuromuscular Diseases
Conclusions
This study has shown that the developed innovative approach to assessing upper extremity function by reachable workspace outcome measure, using a 3D vision-based sensor system is valid, reliable, and sensitive to small changes in upper extremity range of motion. The 3D reachable workspace surface envelope area as a continuous variable is a direct measurement of overall ROM in the upper extremity, and does alleviate some problems associated with other surrogate measures (e.g. ordinal scale, lack of granularity in data, task-oriented outcomes with limited generalizability, time variable as a sole outcome for perf...
Source: PLOS Currents Muscular Dystrophy - December 12, 2013 Category: Neurology Authors: Jay J. Han Source Type: research
A Randomized, Double-Blind Trial of Lisinopril and Losartan for the Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy
In conclusion, there is no difference between the effects of lisinopril versus losartan on EF improvement in DMD boys with CM. The drugs were safe. Thus, this study opens the opportunity to study muscle function in younger boys with DMD to see if the skeletal muscle improvement seen in the mdx mouse following treatment with an ARB might also be demonstrated in DMD boys. 17
Competing Interests
The authors have declared that no competing interests exist.
Correspondence
Hugh D. Allen MD, Heart Center, Texas Children’s Hospital, 6621 Fannin St. Suite 19469, Houston, TX, 77030
E-mail: hdallen@texaschildrens.org
Author C...
Source: PLOS Currents Muscular Dystrophy - December 12, 2013 Category: Neurology Authors: Hugh D. Allen Source Type: research
Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice
Conclusions
This study demonstrates that autophagy was not induced after fasting in the tibialis anterior muscle of dystrophin null mice. Autophagy was potently induced in the diaphragm muscle of mdx as well as wt mice. The difference between the two types of skeletal muscle underlines the fact that a specific treatment to improve muscle condition could have a different effect in different types of muscle.
Corrisponding authors
Annemieke Aartsma-Rus
Human Genetics Department
Leiden University Medical Center
A.M.Aartsma-Rus@lumc.nl
Paolo Bonaldo
Department of Molecular Medicine
University of Padova
bonaldo@bio.unipd.it
...
Source: PLOS Currents Muscular Dystrophy - November 22, 2013 Category: Neurology Authors: pietrospitali Source Type: research
Absence of a Major Role for the Snai1 and Snai3 Genes in Regulating Skeletal Muscle Regeneration in Mice
Discussion
Our results demonstrate effective skeletal muscle regeneration after cardiotoxin-mediated injury in Snai3 homozygous mutant (Snai3null/Snai3null or Snai3-EYFP/Snai3-EYFP) mice. We further show that mice with skeletal muscle-specific deletion of the Snai1 gene on a Snai3 null genetic background exhibit the same general level of skeletal muscle regeneration as the Snai3 mutant homozygotes. While our histopathological analyses cannot exclude minor regeneration defects in the Snai3 single or Snai1/Snai3 double mutants, it is clear that substantial muscle regeneration occurs after cardiotoxin-mediated injury in these...
Source: PLOS Currents Muscular Dystrophy - November 8, 2013 Category: Neurology Authors: nortoc1 Source Type: research
Effects of Dantrolene Therapy on Disease Phenotype in Dystrophin Deficient mdx Mice
In this study we demonstrated that Dantrolene treatment has no significant beneficial effects at the tested dose in young mdx mice. Dantrolene failed to improve the muscle phenotype as measured by functional, behavioral, histological, and imaging assays. The exception being CK levels, which were significantly decreased by Dantrolene treatment.
Dantrolene is a known muscle relaxant and used for the treatment of malignant hyperthermia 11. It decreases the calcium released in skeletal muscle upon stimulation, resulting in decreased muscle contraction 19. In fact, functional assessments such as grip strength and open field act...
Source: PLOS Currents Muscular Dystrophy - November 8, 2013 Category: Neurology Authors: James Quinn Source Type: research
The HDAC Inhibitor TSA Ameliorates a Zebrafish Model of Duchenne Muscular Dystrophy
Discussion
Our results identify a dmd morpholino cocktail that induces a high penetrance of muscle lesions and strongly resembles the zebrafish dmd mutant phenotype. We also show that the HDAC inhibitor TSA rescues both dmd-MO and dmd mutant muscle lesions. By comparing different approaches to scoring muscle lesions, our study confirms a previous report 13 that simple assessment of the muscle birefringence pattern in whole larvae, using a stereomicroscope, is a reliable approach to scoring the dmd-MO or dmd mutant phenotype following chemical treatment. Thus, our work identifies optimal morpholino and phenotypic scoring ap...
Source: PLOS Currents Muscular Dystrophy - September 17, 2013 Category: Neurology Authors: njohnso8 Source Type: research
PLOS Currents: Muscular Dystrophy
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Source: PLOS Currents Muscular Dystrophy - March 22, 2013 Category: Neurology Authors: Liz Flavall Tags: carousel Source Type: research
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All enquiries can be addressed to currents@plos.org (Source: PLOS Currents Muscular Dystrophy)
Source: PLOS Currents Muscular Dystrophy - March 22, 2013 Category: Neurology Authors: Liz Flavall Tags: carousel Source Type: research
