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

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.

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Steroid switching in dystrophinopathy treatment: a US chart review of patient characteristics and clinical outcomes

Journal of Comparative Effectiveness Research ◽

10.2217/cer-2021-0110 ◽

2021 ◽

Author(s):

Jessica R Marden ◽

Claudio Santos ◽

Brian Pfister ◽

Richard Able ◽

Henry Lane ◽

...

Keyword(s):

Muscular Dystrophy ◽

Clinical Outcomes ◽

Clinical Characteristics ◽

Chart Review ◽

Patient Characteristics ◽

Becker Muscular Dystrophy ◽

Slow Disease Progression ◽

Primary Physician ◽

The Usa ◽

The Mean

Aim: To describe reasons for switching from prednisone/prednisolone to deflazacort and associated clinical outcomes among patients with Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) in the USA. Methods: A chart review of patients with DMD (n = 62) or BMD (n = 30) who switched from prednisone to deflazacort (02/2017–12/2018) collected demographic/clinical characteristics, reasons for switching, outcomes and common adverse events. Results: The mean ages at switch were 20.1 (DMD) and 9.2 (BMD) years. The primary physician-reported reasons for switching were ‘to slow disease progression’ (DMD: 83%, BMD: 79%) and ‘tolerability’ (67 and 47%). Switching was ‘very’ or ‘somewhat’ effective at addressing the primary reasons in 90–95% of patients. Conclusion: Physician-reported outcomes were consistent with deflazacort addressing patients' primary reasons for switching.

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Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences ◽

10.2458/v1i2.12366 ◽

2011 ◽

Vol 1 (2) ◽

Author(s):

Melinda F. Davis ◽

Katalin H. Scherer ◽

Timothy M. Miller ◽

F. John Meaney

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Muscular Dystrophy ◽

Disease Severity ◽

Muscle Weakness ◽

Respiratory Function ◽

Rating Scale ◽

Becker Muscular Dystrophy ◽

Progressive Muscle Weakness ◽

Lateral Sclerosis ◽

Disease Specific

Reports an error in Davis et al. (2010). The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum & Stambler, 1997). Both scales are 10-item, disease-specific measures that assess mobility and respiratory function in individuals with progressive muscle weakness. This error does not change the conclusions. DOI:10.2458/azu_jmmss_v1i2_davis

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Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

Journal of Methods and Measurement in the Social Sciences ◽

10.2458/jmm.v1i2.12366 ◽

2011 ◽

Vol 1 (2) ◽

Author(s):

Melinda F. Davis ◽

Katalin H. Scherer ◽

Timothy M. Miller ◽

F. John Meaney

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Muscular Dystrophy ◽

Disease Severity ◽

Muscle Weakness ◽

Respiratory Function ◽

Rating Scale ◽

Becker Muscular Dystrophy ◽

Progressive Muscle Weakness ◽

Lateral Sclerosis ◽

Disease Specific

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Using the spirometry to indicate respiratory exercises for elderly with Parkinson’s disease

Fisioterapia em Movimento ◽

10.1590/1980-5918.031.ao22 ◽

2018 ◽

Vol 31 (0) ◽

Author(s):

Daniela Guimarães ◽

Gabriel Duarte ◽

Karen Trippo ◽

Graziella Furtado ◽

Jamary Oliveira Filho ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Respiratory Function ◽

Respiratory Muscles ◽

Cross Sectional Study ◽

Yahr Stage ◽

Cross Sectional ◽

Respiratory Dysfunction ◽

Predicted Values ◽

Respiratory Exercises

Abstract Introduction: Respiratory dysfunction is the main cause of death in Parkinson's disease (PD) patients and bronchoaspiration pneumonia is the most common clinical respiratory complication. Objective: To assess respiratory function of elderly with PD in mild to moderate phase of the disease. Methods: A cross-sectional study was carried. Elderly in 2 to 3 PD Hoehn & Yahr stage have participated. A single researcher has evaluated maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), thoracoabdominal amplitude, forced vital capacity (FVC) and expiratory volume in the first second (FEV1). Results: Sixty elderly have participated and their all spirometry and manovacuometry parameters presented significant differences (p < 0.05) comparing with predicted values, except for FVC (p = 0.25). Only umbilical level did not reach normal values on cirtometry parameters. Patients classified as a restrictive disorder presented significant decrease in thoracic expandability. However the participants classified as an obstructive disorder showed significant decrease in expiratory muscle strength and peak expiratory flows. Conclusion: Elderly in mild or moderate phase of PD presented reduction in respiratory parameters. Spirometry showed to be an important tool to evaluate respiratory function and to indicate the modality of respiratory exercise. Our results suggest the indication of thoracic flexibility exercises for patient with PD classified as restrictive disorder and strength exercise of respiratory muscles for those classified as obstructive disorder.

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