scholarly journals Advances in Pulmonary Care in Duchenne Muscular Dystrophy

US Neurology ◽  
2017 ◽  
Vol 13 (01) ◽  
pp. 35 ◽  
Author(s):  
Oscar H Mayer ◽  
Erik K Henricson ◽  
Craig M McDonald ◽  
Gunnar M Buyse ◽  
◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Pulmonary Function ◽  
Vital Capacity ◽  
Standard Of Care ◽  
Phase Iii ◽  
Progressive Muscle Weakness ◽  
History Of ◽  
Lower Limit Of Normal ◽  
Successful Phase

Duchenne muscular dystrophy (DMD) is a degenerative neuromuscular disease leading to progressive muscle weakness and loss. This review discusses advances in understanding the natural history of DMD, as well as recent pharmacotherapies. Decline in expiratory and inspiratory pulmonary function results in ineffective airway clearance, sleep-disordered breathing and nocturnal and daytime respiratory failure. Routine measures of pulmonary function include forced vital capacity (FVC) and peak expiratory flow (PEF). Both measures follow parallel trajectories and relentlessly decline, reaching the lower limit of normal of 80% of predicted at early teenage years. Moreover, decline in PEF and FVC are closely correlated with respiratory complications and clinically relevant thresholds for FVC are defined in standard of care recommendations. Glucocorticoids (GCs) delay the onset of pulmonary function decline, but once patients have reached the 80% of predicted threshold the decline of FVC and PEF in GC users and patients not using GCs is comparable. In the successful phase III DELOS trial in DMD patients not using GCs, the short-chain benzoquinone idebenone (Raxone®, Santhera Pharmaceuticals, Liestal, Switzerland) has demonstrated statistically significant and clinically relevant efficacy on expiratory and inspiratory function in patients in the pulmonary function decline stage. These results indicate that idebenone can modify the natural course of respiratory disease progression, which is relevant in clinical practice where loss of respiratory function continues to be a predominant cause of early morbidity and mortality in DMD.

scholarly journals Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients

2021 ◽  
Author(s):  
Craig M McDonald ◽  
Francesco Muntoni ◽  
Vinay Penematsa ◽  
Joel Jiang ◽  
Allan Kristensen ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Disease Progression ◽  
Nonsense Mutation ◽  
Vital Capacity ◽  
Standard Of Care ◽  
Phase Iii ◽  
History Of ◽  
Phase Iii Study

Aim: We investigated the effect of ataluren plus standard of care (SoC) on age at loss of ambulation (LoA) and respiratory decline in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD) versus patients with DMD on SoC alone. Patients & methods: Study 019 was a long-term Phase III study of ataluren safety in nmDMD patients with a history of ataluren exposure. Propensity score matching identified Study 019 and CINRG DNHS patients similar in disease progression predictors. Results & conclusion: Ataluren plus SoC was associated with a 2.2-year delay in age at LoA (p = 0.0006), and a 3.0-year delay in decline of predicted forced vital capacity to <60% in nonambulatory patients (p = 0.0004), versus SoC. Ataluren plus SoC delays disease progression and benefits ambulatory and nonambulatory patients with nmDMD. ClinicalTrials.gov: NCT01557400 .

scholarly journals Use of air stacking to improve pulmonary function in Indonesian Duchenne muscular dystrophy patients: bridging the standard of care gap in low middle income country setting

2019 ◽  
Vol 13 (S11) ◽  
Author(s):  
Kristy Iskandar ◽  
Sunartini ◽  
Andika Priamas Nugrahanto ◽  
Nissya Ilma ◽  
Alvin Santoso Kalim ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Pulmonary Function ◽  
Early Stage ◽  
Standard Of Care ◽  
Assisted Ventilation ◽  
Manual Ventilation ◽  
Predictive Values ◽  
Respiratory Management ◽  
Respiratory Devices

Abstract Background Duchenne Muscular Dystrophy (DMD) is a fatal X-linked recessive neuromuscular disease, characterized by progressive loss of muscle strength. Respiratory failure is the main cause of morbidity and mortality in DMD patients. Respiratory devices have been reported to increase the effectiveness of cough and pulmonary function, thus prolong the survival rate. However, there is scarcity of studies about DMD patients’ respiratory profiles and usage of respiratory devices in Indonesia. Methods We recruited 8 Indonesian DMD patients in Dr. Sardjito Hospital and UGM Academic Hospital, Yogyakarta. Baseline pulmonary function was measured using spirometry. Peak Cough Flow was measured at baseline, with chest compression, after air stacking with manual ventilation bag, and with the combined techniques. Data recorded was presented as mean ± SD and analysed using ANOVA. Results Here we show the respiratory profiles from 8 non-ambulatory DMD patients (mean age: 13.25 ± 3.96 years old) confirmed by genetic testing. None of them had access to respiratory devices. Spirometry measurements showed 7 of 8 patients had severe restrictive pulmonary function with mean FEV1/FVC 22.40 ± 10.30% of predictive values (normal ratio > 70%). In addition, all patients showed poor cough performances measured by peak cough flowmeter (160 ± 44.58 L/min (normal value > 270 L/min)) that were improved by air stacking using a manual ventilation bag (167.4 ± 46.72 L/min). Three patients who had nocturnal hypoventilation did not have daytime hypercapnia. Manual ventilation bag or mechanical in−/ex-sufflation was indicated in 75% of patients while nocturnal assisted ventilation was indicated in 50% of patients. Neither daytime assisted ventilation nor tracheostomy was indicated in these patients. Conclusion Use of manual exsufflation in combination with the manual ventilation bag for air stacking to improve cough performance is recommended as the first step of respiratory management in DMD patients. Provision of manual ventilation bag serve as an affordable and effective device for respiratory support in the early stage of respiratory involvement in those non-ambulatory patients with DMD.

scholarly journals The Natural History of Cardiac and Pulmonary Function Decline in Patients With Duchenne Muscular Dystrophy

Spine ◽  
2011 ◽  
Vol 36 (15) ◽  
pp. E1009-E1017 ◽  
Author(s):  
Rolando Roberto ◽  
Anto Fritz ◽  
Yolanda Hagar ◽  
Braden Boice ◽  
Andrew Skalsky ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Natural History ◽  
Pulmonary Function ◽  
History Of

scholarly journals Perioperative Evaluation of Respiratory Muscle Strength after Scoliosis Correction in Patients with Duchenne Muscular Dystrophy

2017 ◽  
Vol 11 (5) ◽  
pp. 787-792 ◽  
Author(s):  
Wataru Saito ◽  
Kosuke Mizuno ◽  
Gen Inoue ◽  
Takayuki Imura ◽  
Toshiyuki Nakazawa ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Strength ◽  
Pulmonary Function ◽  
Respiratory Function ◽  
Respiratory Muscle ◽  
Vital Capacity ◽  
Respiratory Muscle Strength ◽  
Scoliosis Correction ◽  
The Mean

<sec><title>Study Design</title><p>Retrospective cohort study.</p></sec><sec><title>Purpose</title><p>To investigate the effect of spinal correction on respiratory muscle strength in patients with Duchenne muscular dystrophy (DMD).</p></sec><sec><title>Overview of Literature</title><p>Several studies have reported that scoliosis correction in patients with DMD does not improve pulmonary function. In these studies, pulmonary function was evaluated using the traditional spirometric values of percent vital capacity (%VC) and percent forced vital capacity (%FVC). However, traditional spirometry may not be suitable for patients with DMD because the results can be influenced by patient fatigue or level of understanding. Therefore, we evaluated respiratory function focusing on respiratory muscle strength using maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), and sniff nasal inspiratory pressure (SNIP), in addition to %VC and %FVC.</p></sec><sec><title>Methods</title><p>We retrospectively reviewed 16 patients with DMD who underwent spinal correction surgery between 2006 and 2011 at Kitasato University Hospital. All patients were males, and the mean age was 13.5 years. Respiratory muscle strength was evaluated using MIP, MEP, and SNIP. Measurements were obtained preoperatively and at 1 and 6 months postoperatively, and %VC and %FVC were obtained preoperatively and within 6 months postoperatively.</p></sec><sec><title>Results</title><p>The mean preoperative and postoperative %VC values were 54.0% and 51.7%, whereas the mean %FVC values were 53.9% and 53.2%, respectively. The mean MIP, MEP, and SNIP values obtained preoperatively and at 1 and 6 months postoperatively were as follows: MIP, 40.5, 42.7 and 47.2 cm H<sub>2</sub>O; MEP, 26.0, 28.0, and 29.0 cm H<sub>2</sub>O; and SNIP, 33.4, 33.0, and 33.0 cm H<sub>2</sub>O; respectively. The mean MIP and MEP values significantly improved postoperatively. There were no significant differences in SNIP, %VC, or %FVC preand postoperatively.</p></sec><sec><title>Conclusions</title><p>By focusing on respiratory muscle strength, our results suggest that scoliosis correction in patients with DMD might have a favorable effect on respiratory function.</p></sec>

Natural history of pulmonary function in steroid treated patients with Duchenne muscular dystrophy (DMD)

2016 ◽  
Vol 26 ◽  
pp. S119
Author(s):  
B. Wong ◽  
A. Darmahkasih ◽  
S. Hu ◽  
P. Horn ◽  
J. Bange ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Natural History ◽  
Pulmonary Function ◽  
History Of

scholarly journals Duchenne Muscular Dystrophy - Family in a Crisis

1970 ◽  
pp. 36-39
Author(s):  
M Robed Amin ◽  
Chowdhury Chironjib Borua ◽  
Kaji Shafiqul Alam ◽  
Fazle Rabbi Chowdhury ◽  
Rabiul Jahan Sarkar ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Case Series ◽  
Dystrophin Gene ◽  
Muscle Disease ◽  
Motor Neuron Diseases ◽  
Muscle Diseases ◽  
Progressive Muscle Weakness ◽  
Recessive Disorders ◽  
Dystrophin Protein

Progressive muscular weakness with deformity leading to crippled states develop due to musculoskeletal and neurological disorders. Sometimes it is difficult to differentiate between primary muscle disease and neurological disease. But there is some classical presentation of muscle diseases which have its own entity and thus can be clinically differentiated from neurological disorder especially spinal cord and motor neuron diseases. Muscular dystrophy is one of those disorder with distinct clinical features. Muscular dystrophy refers to a group of genetic, hereditary muscle diseases that cause progressive muscle weakness. Most types of MD are multi-system disorders with manifestations in body systems including skeletal system, the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs. Duchenne muscular dystrophy (DMD), is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes, and is thus considered sex-linked. Males are therefore affected by X-linked recessive disorders much more often than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Duchenne muscular dystrophy and Backers muscular dystrophy are caused by mutations of the gene for the dystrophin protein and lead to an overabundance of the enzyme creatine kinase. The dystrophin gene is the largest gene in humans. In this case series a family with three brothers suffering from Duchenne muscular dystrophy is described and review with literature was done.   doi:10.3329/jom.v10i3.2015 J Medicine 2009; 10 (Supplement 1): 36-39

A Longitudinal Study of Quantitative Muscle Strength and Functional Motor Ability in Ambulatory Boys with Duchenne Muscular Dystrophy

2021 ◽  
pp. 1-14
Author(s):  
Cathleen E. Buckon ◽  
Susan E. Sienko ◽  
Eileen G. Fowler ◽  
Anita M. Bagley ◽  
Loretta A. Staudt ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Strength ◽  
Genetic Disorder ◽  
Knee Extensor ◽  
Standard Of Care ◽  
Rate Of Change ◽  
Isokinetic Dynamometry ◽  
Gross Motor

Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder, that is characterized by progressive muscle degeneration and loss of ambulation between 7–13 years of age. Novel pharmacological agents targeting the genetic defects and disease mechanisms are becoming available; however, corticosteroid (CS) therapy remains the standard of care. Objective: The purpose of this longitudinal study was to elucidate the effect of CS therapy on the rate of muscle strength and gross motor skill decline in boys with DMD and assess the sensitivity of selected outcome measures. Methods: Eighty-four ambulatory boys with DMD (49–180 months), 70 on CS, 14 corticosteroid naïve (NCS), participated in this 8-year multi-site study. Outcomes included; isokinetic dynamometry, the Standing (STD) and Walking/Running/jumping (WRJ) dimensions of the Gross Motor Function Measure (GMFM), and Timed Function Tests (TFTs). Nonlinear mixed modeling procedures determined the rate of change with age and the influence of steroids. Results: Despite CS therapy the rate of decline in strength with age was significant in all muscle groups assessed. CS therapy significantly slowed decline in knee extensor strength, as the NCS group declined at 3x the rate of the CS group. Concurrently, WRJ skills declined in the NCS group at twice the rate of the CS group. 4-stair climb and 10 meter walk/run performance was superior in the boys on CS therapy. Conclusion: CS therapy slowed the rate of muscle strength decline and afforded longer retention of select gross motor skills in boys on CS compared to boys who were NCS. Isokinetic dynamometry, Walk/Run/Jump skills, and select TFTs may prove informative in assessing the efficacy of new therapeutics in ambulatory boys with DMD.

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