A systematic review of risk factors associated with muscular dystrophies

Barakat-Haddad, Caroline; Shin, Sabina; Candundo, Hamilton; Lieshout, Pascal van; Martino, Rosemary

doi:10.1016/j.neuro.2016.03.007

Cited by 9 publications

(8 citation statements)

References 32 publications

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“…The most common form of the disease, FSHD1, is the result of a contraction of microsatellite repeats in the D4Z4 element located on the 4q35 subtelomeric region on chromosome 4 (6,(18)(19)(20)(21). Patients typically present with 1-10 D4Z4 repeats whereas the general population demonstrate 11-100 (6,(18)(19)(20)(21). Correlations between the repeat size and clinical severity of patients have been reported with those harbouring 1-3 copies often more severe than individuals with 8-10 copies (18, 19).…”

Section: Facioscapulohumeral Muscular Dystrophy (Fshd)mentioning

confidence: 99%

“…The muscular dystrophies (MDs) are a super-family of heritable heterogeneous disorders that exhibit similar clinical and pathological features in those affected (1)(2)(3)(4)(5)(6). It is estimated that muscular dystrophies affect as many as 1 in 6,200 people worldwide and costs exceed $1 billion per year in the US alone (5).…”

Section: Introductionmentioning

confidence: 99%

“…Patients commonly present with progressive weakness in the appendicular, axial and maxillofacial muscles but the age of onset, severity of disease and concomitant complications vary dramatically between individuals (1,(4)(5)(6)(7). The distribution of muscle weakness often promotes distinction between the particular types of disease (1).…”

Section: Introductionmentioning

confidence: 99%

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Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation

Fuller

Graham

Hurtado

et al. 2016

Expert Review of Proteomics

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Here, we review the MD literature, highlighting conserved molecular insights warranting mechanistic investigation for therapeutic potential. We also describe a workflow currently proving effective for efficient identification of biomarkers & therapeutic targets in other neurodegenerative conditions, upon which future MD proteomic investigations could be modelled. Expert commentary: Studying disease models can be useful for identifying biomarkers and model specific degenerative cascades, but rarely offer translatable mechanistic insights into disease pathology. Conversely, direct analysis of human samples undergoing degeneration presents challenges derived from complex chronic degenerative molecular processes. This requires a carefully planed & reproducible experimental paradigm accounting for patient selection through to grouping by disease severity and ending with proteomic data filtering and processing.

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Section: Facioscapulohumeral Muscular Dystrophy (Fshd)mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation

Fuller

Graham

Hurtado

et al. 2016

Expert Review of Proteomics

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“…In 2017, a systematic review suggested the association of some of these genetic variants with LoA [ 18 ]. Since then, new studies have been published that may improve the available evidence [ 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic Modifiers and Phenotype of Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

et al. 2021

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The transforming growth factor beta (TGFβ) pathway could modulate the Duchenne muscular dystrophy (DMD) phenotype. This meta-analysis aims to estimate the association of genetic variants involved in the TGFβ pathway, including the latent transforming growth factor beta binding protein 4 (LTBP4) and secreted phosphoprotein 1 (SPP1) genes, among others, with age of loss of ambulation (LoA) and cardiac function in patients with DMD. Meta-analyses were conducted for the hazard ratio (HR) of LoA for each genetic variant. A subgroup analysis was performed in patients treated exclusively with glucocorticoids. Eight studies were included in the systematic review and four in the meta-analyses. The systematic review suggests a protective effect of LTBP4 haplotype IAAM (recessive model) for LoA. It is also suggested that the SPP1 rs28357094 genotype G (dominant model) is associated with early LoA in glucocorticoids-treated patients. The meta-analysis of the LTBP4 haplotype IAAM showed a protective association with LoA, with an HR = 0.78 (95% CI: 0.67–0.90). No association with LoA was observed for the SPP1 rs28357094. The LTBP4 haplotype IAAM is associated with a later LoA, especially in the Caucasian population, while the SPP1 rs28357094 genotype G could be associated with a poor response to glucocorticoids. Future research is suggested for SPP1 rs11730582, LTBP4 rs710160, and THBS1 rs2725797.

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“…The use of glucocorticoids and physiotherapy delays the loss of strength and ambulation5 6; early pharmacological therapy for heart failure improves prognosis and survival7; and surgery for scoliosis, respiratory physiotherapy and the use of non-invasive ventilation have enhanced lung capacity, hypercapnia and respiratory failure, increasing survival 8–10. Also, a high interindividual intrinsic variability in the progression of the disease due to the type of mutation in DMD , or to polymorphisms in other genes, is characteristic 11…”

Section: Introductionmentioning

confidence: 99%

Effectiveness of pharmacological treatments in Duchenne muscular dystrophy: a protocol for a systematic review and meta-analysis

et al. 2019

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IntroductionIn recent years, important advances have been made in the treatment of Duchenne muscular dystrophy (DMD). This protocol proposes a methodology for carrying out a systematic review and meta-analysis that aims to: (1) improve the evidence of the benefits of different pharmacological treatments in boys with DMD, and (2) compare the benefit of treatments specifically aimed at delaying the progression of disease in the functional outcomes.Methods and analysisThis protocol is guided by the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P) and by the Cochrane Collaboration Handbook. A thorough selection of the literature will be done through the MEDLINE, EMBASE and Web of Science databases. The search will be conducted in English and Spanish. The Risk of Bias 2.0 tool from the Cochrane Collaboration will be used to assess the risk of bias. A narrative synthesis of the data will be performed. Meta-analysis will be conducted for effect of treatment on the 6 min walking distance (6MWD), North Star Ambulatory Assessment and Timed Functional Tests. Subgroup analyses will be performed by age or baseline values of the 6MWD, and overall bias.Ethics and disseminationThe approval of an ethical committee is not required. All the included trials will comply with the current ethical standards and the Declaration of Helsinki. The results of this proposed systematic review and meta-analysis will provide a general overview and evidence concerning the effectiveness of pharmacological treatments in Duchenne muscular dystrophy. Findings will be disseminated to academic audiences through peer-reviewed publications, as well as to clinical audiences, patients’ associations and policy makers, and may influence guideline developers in order to improve outcomes for these patients.PROSPERO registration numberCRD42018102207

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A systematic review of risk factors associated with muscular dystrophies

Cited by 9 publications

References 32 publications

Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation

Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation

Genetic Modifiers and Phenotype of Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

Effectiveness of pharmacological treatments in Duchenne muscular dystrophy: a protocol for a systematic review and meta-analysis

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