Cardiovascular Health Supervision for Individuals Affected by Duchenne or Becker Muscular Dystrophy

Klitzner, Thomas S.; Beekman, Robert H.; Galioto, Frank M.; Jones, Thomas K.; Manning, Peter B.; Morrow, W. Robert; Newburger, Jane W.; Moore, John W.; Cripe, Linda H.; Colegrove, Lynn

doi:10.1542/peds.2005-2448

Cited by 172 publications

(41 citation statements)

References 60 publications

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“…We performed a detailed physical examination and health status history interview at each visit based on DMD-care guidelines 3,4,76–78 and expert opinions from clinicians and researchers with expertise in the care of patients with DMD. Data collected include participant demographics, molecular diagnostics history, family history of DMD, and a complete medical history.…”

Section: Methodsmentioning

confidence: 99%

The cooperative international neuromuscular research group duchenne natural history study—a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used

et al. 2013

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Contemporary natural history data in Duchenne muscular dystrophy (DMD) is needed to assess care recommendations and aid in planning future trials. Methods The Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD‐NHS) enrolled 340 individuals, aged 2–28 years, with DMD in a longitudinal, observational study at 20 centers. Assessments obtained every 3 months for 1 year, at 18 months, and annually thereafter included: clinical history; anthropometrics; goniometry; manual muscle testing; quantitative muscle strength; timed function tests; pulmonary function; and patient‐reported outcomes/health‐related quality‐of‐life instruments. Results Glucocorticoid (GC) use at baseline was 62% present, 14% past, and 24% GC‐naive. In those ≥6 years of age, 16% lost ambulation over the first 12 months (mean age 10.8 years). Conclusions Detailed information on the study methodology of the CINRG DMD‐NHS lays the groundwork for future analyses of prospective longitudinal natural history data. These data will assist investigators in designing clinical trials of novel therapeutics. Muscle Nerve, 2013

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Section: Methodsmentioning

confidence: 99%

The cooperative international neuromuscular research group duchenne natural history study—a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used

et al. 2013

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“…Patients with DMD inevitably experience progressive muscle weakness, becoming non-ambulatory in the second decade of life and eventually requiring respiratory support. Currently, with intensive respiratory care, many patients with DMD can live into their late 20s and beyond 3. Moreover, corticosteroid therapy and better supportive cardiopulmonary care has led to improved survival in patients with DMD, according to a report published by Moxley, et al4 in 2010.…”

Section: Introductionmentioning

confidence: 99%

Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

et al. 2017

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PurposeDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries. We analyzed multiplex ligation-dependent probe amplification (MLPA) data in a large number of Korean patients with DMD/BMD.Materials and MethodsWe obtained 130 positive MLPA results (86 DMD, 27 BMD, and 17 female carriers) from 272 candidates (237 clinically suspected patients and 35 possible female carriers) who took part in this study. We analyzed the mutation patterns among 113 patients diagnosed by MLPA and calculated deletion/duplication percentages from a total of 128 patients, including 15 patients who were diagnosed using methods other than MLPA. We also analyzed hot spot locations among the 130 MLPA-positive results.ResultsMost mutations were detected in a central hot spot region between exons 44 and 55 (80 samples, 60.6%). Unlike previous reports, a second frequently observed hot spot near the 5'-end was not distinctive. MLPA detected deletions in specific exons in 92 patients with DMD/BMD (71.8%) and duplications in 21 patients (16.4%).ConclusionOur MLPA study of a large number of Korean patients with DMD/BMD identified the most frequent mutation hot spot, as well as a unique hot spot pattern. DMD gene mutation patterns do not appear to show significant ethnic differences.

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“…Women who carry a dystrophin mutation can rarely present with a severe phenotype as the result of skewed X-inactivation [3] but more typically exhibit mild weakness, and cardiac abnormalities that range from asymptomatic mild left ventricle dilatation to severe cardiomyopathy requiring transplantation or causing death [4–6]. Based on these findings, surveillance guidelines published in 2005 recommend that women who are carriers for Duchenne or Becker muscular dystrophy should be counseled about their risk to develop cardiomyopathy and should receive complete cardiac evaluation every five years [7]. Carrier testing also has important ramifications on reproductive health management, including frequency of pregnancy terminations, reduction in number of pregnancies in at-risk women compared to control populations, percent of women who avoided pregnancies and limited their family size due to their risk, and rates of tubal ligation before and after genetic counseling in at-risk women [8–11].…”

Section: Introductionmentioning

confidence: 99%

Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy

Bogue

Peay

Martin

et al. 2016

Neuromuscular Disorders

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Our study objective was to survey female carriers for Duchenne and Becker muscular dystrophy to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management. We surveyed women who have or had biological sons with Duchenne or Becker muscular dystrophy and were enrolled in the US DuchenneConnect patient registry, with questions assessing knowledge of carrier status and recurrence risk, knowledge of care standards for carriers, and barriers to testing. Of the 182 eligible respondents, 25% did not know their carrier status and 14% incorrectly classified themselves as not at risk. Cost of testing was the most commonly identified barrier to testing. Women reporting unknown carrier status were 13 times as likely to express uncertainty regarding their recurrence risk compared to women reporting positive carrier status. 37% of women at an increased risk for cardiomyopathy had never had an echocardiogram. Women who were certain of their positive carrier status were twice as likely to have had an echocardiogram in the last five years compared to women with unknown carrier status. Future research on reducing barriers to counseling and carrier testing, such as cost, may improve care standard adherence.

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Cardiovascular Health Supervision for Individuals Affected by Duchenne or Becker Muscular Dystrophy

Cited by 172 publications

References 60 publications

The cooperative international neuromuscular research group duchenne natural history study—a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used

The cooperative international neuromuscular research group duchenne natural history study—a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used

Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy

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