Corrigendum to “Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)” [Neuromuscular Disorders 25 (2015) 937–944]

Abstract Background: Assessment of pain is not routine, standardized, or well-understood in individuals with Duchenne muscular dystrophy (DMD), even though pain is a common problem reported by more than half of DMD patients. Previous studies in this area included multiple neuromuscular diseases with highly variable phenotypes. Therefore, our aim was to focus on DMD specifically and evaluate comprehensive pain characteristics according to the disease stages, from ambulatory to late non-ambulatory. Methods: This was a cross-sectional study conducted in an out-patient pediatric rehabilitation clinic. Participants were 148 males with confirmed DMD, 14.5±5.3 years of age. Face-to-face interviews were conducted using a structured questionnaire regarding pain frequency, duration, intensity, location, aggravating/relieving factors, pain interference (Brief Pain Inventory), pain quality (PainDETECT Questionnaire), and functional ability (DMD Functional Ability Self-Assessment Tool). Pain characteristics were analyzed according to the clinical stage: ambulatory (Amb), early non-ambulatory (ENA), and late non-ambulatory (LNA).Results: Of the 148 participants who completed the assessment, 66 (44.6%) reported pain during the previous 4 weeks. There were no differences in the pain duration or intensity among the three groups. Pain location (Amb: calf, ENA: knee, LNA: lumbosacral region), aggravating factor (Amb: ambulation, ENA: transfer, LNA: sitting), and relieving factor (Amb: rest and massage, ENA and LNA: positional change) differed according to the clinical stage. Individuals in the LNA stage reported an increase in the frequency of pain and number of pain sites. The effect of pain on mood was also found to be greater in the LNA group than in the other clinical stages. Conclusion: Pain characteristics including location, aggravating/relieving factors, pain frequency, and pain interference change as the disease progresses in patients with DMD. Clinicians could more efficiently and critically assess and manage the patients’ pain aspect, based on these findings.

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

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2017.157 ◽

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.

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Integrating pediatric palliative care across the spectrum of life threatening pediatric neuromuscular disorders focused on Spinal muscular atrophy type I and Duchenne muscular dystrophy

Neuropediatrics ◽

10.1055/s-0031-1274094 ◽

2011 ◽

Vol 42 (S 01) ◽

Author(s):

M von der Hagen ◽

M Smitka ◽

A Pyper ◽

M Breiting ◽

A Müller ◽

...

Keyword(s):

Palliative Care ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Neuromuscular Disorders ◽

Pediatric Palliative Care ◽

Type I ◽

Spinal Muscular Atrophy Type ◽

Life Threatening

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MiRNAs and Muscle Regeneration: Therapeutic Targets in Duchenne Muscular Dystrophy

International Journal of Molecular Sciences ◽

10.3390/ijms22084236 ◽

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).

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INCREASED EXPRESSION OF HLA ABC CLASS I ANTIGENS BY MUSCLE FIBRES IN DUCHENNE MUSCULAR DYSTROPHY, INFLAMMATORY MYOPATHY, AND OTHER NEUROMUSCULAR DISORDERS

The Lancet ◽

10.1016/s0140-6736(85)91384-4 ◽

1985 ◽

Vol 325 (8425) ◽

pp. 361-363 ◽

Cited By ~ 95

Author(s):

S.T. Appleyard ◽

V. Dubowitz ◽

M.J. Dunn ◽

M.L. Rose

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Neuromuscular Disorders ◽

Inflammatory Myopathy ◽

Class I ◽

Muscle Fibres

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

The Indian Journal of Pediatrics ◽

10.1007/s12098-016-2251-7 ◽

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

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Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update

Genes ◽

10.3390/genes11080837 ◽

2020 ◽

Vol 11 (8) ◽

pp. 837 ◽

Cited By ~ 4

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.

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The Duchenne muscular dystrophy gene and cancer

Cellular Oncology ◽

10.1007/s13402-020-00572-y ◽

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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