scholarly journals P.073 Factors associated with fatigue in children and adolescents with Duchenne muscular dystrophy: A Canada-wide cross-sectional survey

2017 ◽  
Vol 44 (S2) ◽  
pp. S31-S32
Author(s):  
B El-Aloul ◽  
Y Wei ◽  
K Speechley ◽  
C Campbell
Keyword(s):  
Physical Activity ◽  
Depressive Symptoms ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Functional Ability ◽  
Sleep Disturbances ◽  
Neuromuscular Disorders ◽  
Parent Report ◽  
Published Data ◽  
Patient Report

Background: Fatigue is frequent and disabling in adults with neuromuscular disorders, but not well characterized in paediatric neuromuscular disorders. Recently, fatigue was reported to be associated with poor health-related quality of life in children with Duchenne muscular dystrophy (DMD). Determinants of fatigue—a modifiable symptom—have not been studied in DMD. Our objective was to explore risk factors for fatigue in children with DMD. Methods: Patients aged 4–17 years identified via the Canadian Neuromuscular Disease Registry received mailed questionnaires. Fatigue was assessed using the PedsQLTM Multidimensional Fatigue Scale (patient- and parent-report). Standardized measures for depressive symptoms, sleep disturbances, functional ability and physical activity were used. Spearman’s correlations and Wilcoxon rank-sum tests were computed. Results: Of 194 eligible patients, 64 have responded to date. DMD patients reported greater fatigue than healthy controls from published data. Depressive symptoms were associated with greater fatigue, by patient-report (ρ=-0.44, P<0.001) and parent-report (ρ=-0.40, P=0.002). Sleep disturbances were associated with greater fatigue, by patient-report (ρ=-0.41, P=0.007) and parent-report (ρ=-0.51, P<0.001). Greater functional ability was associated with less fatigue, by parent-report (ρ=0.30, P=0.02). Physical activity and ambulatory status were not associated with fatigue. Conclusions: Fatigue is a significant issue in DMD. Depressive symptoms and sleep disturbances are associated with fatigue, warranting attention in therapeutic strategies to reduce fatigue.

scholarly journals A.01 The relationship between fatigue and health-related quality of life in a clinical trial population of Duchenne muscular dystrophy patients

2017 ◽  
Vol 44 (S2) ◽  
pp. S8-S8
Author(s):  
Y Wei ◽  
B El-Aloul ◽  
C Nguyen ◽  
E Zapata-Aldana ◽  
C Campbell
Keyword(s):  
Quality Of Life ◽  
Clinical Trial ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Parent Report ◽  
Health Related Quality ◽  
Patient Report ◽  
Related Quality ◽  
Health Related

Background: Fatigue was recently reported to be the largest contributor to poor health-related quality of life (HRQOL) in paediatric Duchenne muscular dystrophy (DMD). Additional studies are necessary to confirm the generalizability of this finding. Our objective was to explore the longitudinal relationship between fatigue and HRQOL in an additional cohort of DMD patients. Methods: We performed a secondary analysis of data from a clinical trial (NCT00592553), which enrolled patients with nonsense mutation DMD, aged 5–20 years, from 37 sites in 11 countries (N=174). Fatigue and HRQOL were assessed using the PedsQLTM Multidimensional Fatigue Scale and Generic Core Scales, respectively, by patient- and parent-report at baseline and over 48 weeks. Results: Patients reported greater fatigue than healthy controls from published data. There was no significant difference between patient- and parent-reported fatigue. Fatigue was significantly correlated with worse HRQOL at baseline, by patient-report (r=0.70, P<0.001) and parent-report (r=0.70, P<0.001); and at 48 weeks, by patient-report (r=0.79, P<0.001) and parent-report (r=0.74, P<0.001). Change in fatigue was significantly correlated with change in HRQOL over 48 weeks, by patient-report (r=0.64, P<0.001) and parent-report (r=0.67, P<0.001). Conclusions: Fatigue is a major contributor to HRQOL in DMD. The strong association between fatigue and HRQOL corroborates previous studies, and suggests that reducing fatigue may improve HRQOL.

scholarly journals MiRNAs and Muscle Regeneration: Therapeutic Targets in Duchenne Muscular Dystrophy

2021 ◽  
Vol 22 (8) ◽  
pp. 4236
Author(s):  
Amelia Eva Aránega ◽  
Estefanía Lozano-Velasco ◽  
Lara Rodriguez-Outeiriño ◽  
Felicitas Ramírez de Acuña ◽  
Diego Franco ◽  
...  
Keyword(s):  
Stem Cell ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Regeneration ◽  
Transcriptional Control ◽  
Neuromuscular Disorders ◽  
Critical Role ◽  
Gene Replacement ◽  
Control Of Gene Expression ◽  
Muscle Disorders

microRNAs (miRNAs) are small non-coding RNAs required for the post-transcriptional control of gene expression. MicroRNAs play a critical role in modulating muscle regeneration and stem cell behavior. Muscle regeneration is affected in muscular dystrophies, and a critical point for the development of effective strategies for treating muscle disorders is optimizing approaches to target muscle stem cells in order to increase the ability to regenerate lost tissue. Within this framework, miRNAs are emerging as implicated in muscle stem cell response in neuromuscular disorders and new methodologies to regulate the expression of key microRNAs are coming up. In this review, we summarize recent advances highlighting the potential of miRNAs to be used in conjunction with gene replacement therapies, in order to improve muscle regeneration in the context of Duchenne Muscular Dystrophy (DMD).

Ankle-Foot Orthosis in Duchenne Muscular Dystrophy: A 4 year Experience in a Multidisciplinary Neuromuscular Disorders Clinic

2016 ◽  
Vol 84 (3) ◽  
pp. 211-215
Author(s):  
Anupam Gupta ◽  
Atchayaram Nalini ◽  
Shanti Prakash Arya ◽  
Seena Vengalil ◽  
Meeka Khanna ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Neuromuscular Disorders ◽  
Ankle Foot Orthosis ◽  
Foot Orthosis

scholarly journals Amitriptyline is efficacious in ameliorating muscle inflammation and depressive symptoms in themdxmouse model of Duchenne muscular dystrophy

2014 ◽  
Vol 99 (10) ◽  
pp. 1370-1386 ◽  
Author(s):  
Jennifer Manning ◽  
Rebecca Kulbida ◽  
Prerana Rai ◽  
Lindsay Jensen ◽  
Judith Bouma ◽  
...  
Keyword(s):  
Depressive Symptoms ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Inflammation

scholarly journals Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update

Genes ◽  
2020 ◽  
Vol 11 (8) ◽  
pp. 837 ◽  
Author(s):  
Chengmei Sun ◽  
Luoan Shen ◽  
Zheng Zhang ◽  
Xin Xie
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Motor Neurons ◽  
Neuromuscular Junctions ◽  
Neuromuscular Disorders ◽  
Dystrophin Gene ◽  
Current Status ◽  
Muscle Stem Cells ◽  
Cell Based Therapy ◽  
Dystrophin Protein

Neuromuscular disorders encompass a heterogeneous group of conditions that impair the function of muscles, motor neurons, peripheral nerves, and neuromuscular junctions. Being the most common and most severe type of muscular dystrophy, Duchenne muscular dystrophy (DMD), is caused by mutations in the X-linked dystrophin gene. Loss of dystrophin protein leads to recurrent myofiber damage, chronic inflammation, progressive fibrosis, and dysfunction of muscle stem cells. Over the last few years, there has been considerable development of diagnosis and therapeutics for DMD, but current treatments do not cure the disease. Here, we review the current status of DMD pathogenesis and therapy, focusing on mutational spectrum, diagnosis tools, clinical trials, and therapeutic approaches including dystrophin restoration, gene therapy, and myogenic cell transplantation. Furthermore, we present the clinical potential of advanced strategies combining gene editing, cell-based therapy with tissue engineering for the treatment of muscular dystrophy.

scholarly journals The Duchenne muscular dystrophy gene and cancer

2020 ◽  
Author(s):  
Leanne Jones ◽  
Michael Naidoo ◽  
Lee R. Machado ◽  
Karen Anthony
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Protein ◽  
Neuromuscular Disorders ◽  
Becker Muscular Dystrophy ◽  
Gene Products ◽  
Large Gene ◽  
Cancer Types ◽  
And Function ◽  
Dystrophin Protein

Abstract Background Mutation of the Duchenne muscular dystrophy (DMD) gene causes Duchenne and Becker muscular dystrophy, degenerative neuromuscular disorders that primarily affect voluntary muscles. However, increasing evidence implicates DMD in the development of all major cancer types. DMD is a large gene with 79 exons that codes for the essential muscle protein dystrophin. Alternative promotor usage drives the production of several additional dystrophin protein products with roles that extend beyond skeletal muscle. The importance and function(s) of these gene products outside of muscle are not well understood. Conclusions We highlight a clear role for DMD in the pathogenesis of several cancers, including sarcomas, leukaemia’s, lymphomas, nervous system tumours, melanomas and various carcinomas. We note that the normal balance of DMD gene products is often disrupted in cancer. The short dystrophin protein Dp71 is, for example, typically maintained in cancer whilst the full-length Dp427 gene product, a likely tumour suppressor, is frequently inactivated in cancer due to a recurrent loss of 5’ exons. Therefore, the ratio of short and long gene products may be important in tumorigenesis. In this review, we summarise the tumours in which DMD is implicated and provide a hypothesis for possible mechanisms of tumorigenesis, although the question of cause or effect may remain. We hope to stimulate further study into the potential role of DMD gene products in cancer and the development of novel therapeutics that target DMD.

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