scholarly journals Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet

2016 ◽  
Vol 9 (1) ◽  
pp. 5-11 ◽  
Author(s):  
Emma Ciafaloni ◽  
Anil Kumar ◽  
Ke Liu ◽  
Shree Pandya ◽  
Christina Westfield ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Age At Onset ◽  
Becker Muscular Dystrophy

Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report

2020 ◽  
Vol 7 (4) ◽  
pp. 425-431
Author(s):  
Madoka Mori-Yoshimura ◽  
Yasushi Oya ◽  
Hirohumi Komaki ◽  
Kazuhiko Segawa ◽  
Narihiro Minami ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Respiratory Function ◽  
Age At Onset ◽  
Case Series ◽  
Respiratory Muscles ◽  
Patient Characteristics ◽  
Becker Muscular Dystrophy ◽  
Source Population ◽  
Respiratory Dysfunction ◽  
Ambulant Patient

Background: Few studies have examined respiratory dysfunction in patients with Becker muscular dystrophy (BMD). Objective: This study aimed to examine the characteristics of respiratory dysfunction in patients with BMD. Methods: The present retrospective study assessed respiratory parameters of adult BMD patients using medical records and compared these parameters with various patient characteristics to identify correlations. BMD patients aged 17 years and older who had been diagnosed genetically and/or pathologically were included in the analysis. Results: Of the source population of 133 patients, respiratory function was assessed in 85. Two of these patients had no symptoms, and eight had died. Mean % forced vital capacity (% FVC) was 94.2+/–21.7% (median, 96.1%; range, 5.1–134.1%). In 16 (19%) of the 85 patients, % FVC was <80%. Of these, seven were non-ambulant. Age, ambulation, and cardiac function did not significantly differ between patients with or without respiratory dysfunction, whereas age at onset was significantly lower in patients with respiratory dysfunction (7.7+/–4.7 years vs. 14.4+/–11.9 years; p = 0.001). One non-ambulant patient was a continuous NPPV user, and one patient had been recommended NPPV use but refused. Autopsy of one patient revealed that the diaphragm and intercostal muscles were less affected than proximal skeletal muscles. Conclusion: BMD patients are at risk of developing respiratory dysfunction due to dystrophic changes in respiratory muscles. Respiratory function should be carefully and periodically monitored in these patients.

Prenatal diagnosis of Duchenne and Becker muscular dystrophy by multiplex ligation-dependent probe amplification

2009 ◽  
Vol 31 (6) ◽  
pp. 600-604
Author(s):  
Qian WANG ◽  
Chun-Lian JIN ◽  
Chang-Kun LIN ◽  
Wan-Ting CUI ◽  
Hong-Wei MA ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Becker Muscular Dystrophy ◽  
Dependent Probe

Prenatal diagnosis of two co-occurring genetic conditions: FOGX1 contiguous deletion and Becker Muscular Dystrophy

2021 ◽  
Vol 132 ◽  
pp. S309-S310
Author(s):  
Natalie Burrill ◽  
Beverly Coleman ◽  
Sonika Agarwal ◽  
Julie Moldenhauer ◽  
Nahla Khalek
Keyword(s):  
Prenatal Diagnosis ◽  
Muscular Dystrophy ◽  
Becker Muscular Dystrophy

scholarly journals Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report

2019 ◽  
Vol 3 (3) ◽  
Author(s):  
Paola Dolader ◽  
Ella Field ◽  
Anna Sarkozy ◽  
Juan Pablo Kaski
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Muscular Dystrophy ◽  
Neuromuscular Disorders ◽  
Elevated Serum ◽  
Becker Muscular Dystrophy ◽  
Neuromuscular Disorder ◽  
Chain Gene ◽  
Septal Hypertrophy ◽  
History Of ◽  
Myocardial Involvement

Abstract Background  Becker muscular dystrophy (BMD) is a neuromuscular disorder associated with myocardial involvement. The most frequent presentation is dilated cardiomyopathy. There have been isolated reports of hypertrophic cardiomyopathy (HCM) in association with BMD, but it is unclear whether these patients had an additional aetiology. Case summary  A 10-year-old boy was diagnosed with BMD having presented with a history of muscular pain during exercise and elevated serum creatine kinase levels. A cardiac screening was arranged and the echocardiogram confirmed an asymmetric septal hypertrophy. Given the unusual finding of HCM in this patient with BMD, we performed genetic testing for HCM-causing mutations and identified a likely pathogenic variant in heterozygosis in the beta-myosin heavy chain gene. Discussion  This case highlights the importance of considering additional aetiologies of cardiac disease in the presence of infrequent phenotypic expressions in neuromuscular disorders.

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