The importance of genetic diagnosis for Duchenne muscular dystrophy

Aartsma‐Rus, Annemieke; Ginjaar, Ieke B.; Bushby, Kate

doi:10.1136/jmedgenet-2015-103387

Cited by 279 publications

(325 citation statements)

References 47 publications

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“…Current standards of care for DMD diagnosis suggest bypassing muscle biopsy and performing genetic testing first 6–8. Since deletions and duplications of one or more exons are identified in the majority of patients, it is most cost-effective to check for these mutations first by multiplex ligation-dependent probe amplification (MLPA) 8. Most centres still perform muscle biopsy when MLPA analysis does not reveal deletions or duplications, to definitely confirm a dystrophinopathy.…”

Section: Introductionmentioning

confidence: 99%

A current approach to heart failure in Duchenne muscular dystrophy

D’Amario

Amodeo

Adorisio

et al. 2017

Heart

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Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by the long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually loose ambulation during the early adolescence. However, an early diagnosis of cardiovascular disease in patients with DMD is decisive since it allows a timely initiation of cardioprotective therapies that can mitigate HF symptoms and delay detrimental heart muscle remodelling. Echocardiography and ECG are standardly used for screening and detection of cardiovascular abnormalities in these patients, although these tools are not always adequate to detect an early, clinically asymptomatic phases of disease progression. In this regard, cardiovascular magnetic resonance (CMR) with late gadolinium enhancement is emerging as a promising method for the detection of early cardiac involvement in patients with DMD. The early detection of cardiac dysfunction allows the therapeutic institution of various classes of drugs such as corticosteroids, beta-blockers, ACE inhibitors, antimineralocorticoid diuretics and novel pharmacological and surgical solutions in the multimodal and multidisciplinary care for this group of patients. This review will focus on these challenges and available options for HF in patients with DMD.

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Section: Introductionmentioning

confidence: 99%

A current approach to heart failure in Duchenne muscular dystrophy

D’Amario

Amodeo

Adorisio

et al. 2017

Heart

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“…Despite the significant progress made in identifying DMD and the straightforward diagnostic pathway (Bushby et al, 2009; Verma et al, 2010; Ciafaloni et al, 2009), more than 3 decades of research continues to report on the protracted nature of reaching a definitive DMD diagnosis (Aartsma-Rus, Ginjaar & Bushby, 2016; Ciafaloni et al, 2009; Crisp et al, 1982; Firth, 1983; Green & Murton, 1996; Holtzer et al, 2011; Marshall & Galasko, 1995; Parsons, Clarke & Bradley, 2004; van Ruiten, Straub, Bushby & Guglieri, 2014). Past research has shown that parents of boys with DMD often report concerns when their sons are between the ages of 6 months and 3 years due to their child not meeting or regressing in certain developmental milestones (Ciafaloni et al, 2009; Crisp et al, 1982; Firth, 1983; Green & Murton, 1996; Holtzer et al, 2011; Marshall & Galasko, 1995; Parsons et al, 2004).…”

Section: Introductionmentioning

confidence: 99%

Parental Reflections on the Diagnostic Process for Duchenne Muscular Dystrophy: A Qualitative Study

Bendixen¹,

Houtrow²

2017

Journal of Pediatric Health Care

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Purpose Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease with no known cure. We sought to update over 30 years of research reporting on the diagnostic delays in DMD. Methods Through personal interviews, this study qualitatively explored parent’s experiences regarding receipt of the DMD diagnosis and the guidance for care provided. Thematic analysis identified themes and provided answers to the research questions being addressed. Results Four themes emerged: 1) Dismissive illustrates little consideration of parent concern in the diagnostic process; 2) Limited Knowledge describes misunderstandings about clinical signs, recommended screenings and testing to achieve a diagnosis of DMD; 3) Careless Delivery reports on the manner in which the diagnosis was given; 4) Lack of Guidance describes the follow-up that occurred following the diagnosis. Conclusion Despite marked medical progress over the past several decades, substantial barriers to arriving at the diagnosis of DMD and the provision of care guidance remain.

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“…These techniques are usually the first genetic analyses to be performed for a patient with suspected DMD. Then for cases where an exon copy number variant is not identified, or in positive cases where the patient is to be considered for exon-skipping therapy, sequencing of the entire coding region from genomic DNA should be performed [31]. Next generation sequencing (NGS) strategies facilitate this process and can include sub-exomic targeted gene panels or whole exome sequencing [32][33][34].…”

Section: Methodsmentioning

confidence: 99%