scholarly journals Influence of β2 Adrenergic Receptor Genotype on Longitudinal Measures of Forced Vital Capacity in Patients with Duchenne Muscular Dystrophy

2022 ◽  
Author(s):  
Eli F Kelley ◽  
Troy J Cross ◽  
Craig M. McDonald ◽  
Eric P. Hoffman ◽  
Luca Bello
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Forced Vital Capacity ◽  
Adrenergic Receptor ◽  
Vital Capacity ◽  
Β2 Adrenergic Receptor

Performance of the Upper Limb Module—A Reliable and Valid Evaluation for Chinese Patients with Duchenne Muscular Dystrophy

2020 ◽  
Author(s):  
Yuen Yee Alice Chiu ◽  
Chun Wai Lo ◽  
Chi Kuk Connie Hui ◽  
Wai Chong Susanna Choi ◽  
So Lun Lee ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Upper Limb ◽  
Forced Vital Capacity ◽  
Motor Performance ◽  
Vital Capacity ◽  
High Reliability ◽  
Reliability And Validity ◽  
Chinese Patients ◽  
Rater Reliability

Abstract Background Duchenne muscular dystrophy is a genetic disease leading to progressive muscle weakness and degeneration. Effective assessment tool is needed to allow monitoring of progress to guide the management. This study assessed the reliability and validity of the Performance of Upper Limb (PUL) Module when used in patients with Duchenne Muscular Dystrophy (DMD). MethodsTotal thirty-three Chinese DMD patients were included. Twenty-five video-recorded PUL Module version 1.3 assessments were performed for the recruited patients with three raters evaluated the same recorded video for inter-rater reliability and evaluated the same performance one month later for intra-rater reliability. Construct validity was assessed correlating the PUL Module scores with the patients’ age, their forced vital capacity (N=25) and their Hammersmith motor scale scores (N=25) performed on the same day. ResultsThe intra-rater and inter-rater reliability (ICC 0.92 - 0.99), internal consistency (Cronbach’s alpha 0.97 - 0.99) and known groups validity (AUC 0.97) of PUL module were excellent. PUL was negatively correlated with age (r = -0.912), and positively correlated with the forced vital capacity (r = 0.87) and the Hammersmith motor scale (r = 0.84). The findings confirm the high reliability and validity of PUL module, and its high clinical relevancy in monitoring the deteriorating upper limb motor performance that strongly correlated with the lung function and generalized motor performance as age increased in DMD. ConclusionThis first study of PUL module in Chinese patients with DMD confirmed that it is a reliable valid tool to monitor clinical progress and outcome for DMD.

A longitudinal study of forced vital capacity in Duchenne muscular dystrophy

1997 ◽  
Vol 7 (6-7) ◽  
pp. 435
Author(s):  
M.F. Phillips ◽  
R. Quinlivan ◽  
R.H.T. Edwards ◽  
P.M.A. Calverley
Keyword(s):  
Longitudinal Study ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Forced Vital Capacity ◽  
Vital Capacity

Postural vital capacity difference with aging in duchenne muscular dystrophy

2015 ◽  
Vol 52 (5) ◽  
pp. 722-727 ◽  
Author(s):  
Yu Hui Won ◽  
Won Ah Choi ◽  
Dong Hyun Kim ◽  
Seong-Woong Kang
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Vital Capacity

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 .

S.P.23 Percent predicted forced vital capacity is a viable outcome measure in Laminin alpha 2 – Deficient congenital muscular dystrophy

2012 ◽  
Vol 22 (9-10) ◽  
pp. 893-894
Author(s):  
J. Collins ◽  
R. Vandyke ◽  
M. Fenchel ◽  
M. McCallum ◽  
S. Volker ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Forced Vital Capacity ◽  
Vital Capacity ◽  
Outcome Measure ◽  
Congenital Muscular Dystrophy

P.1.3 Postural changes in forced vital capacity characterize congenital muscular dystrophy subtypes

2013 ◽  
Vol 23 (9-10) ◽  
pp. 742
Author(s):  
K.G. Meilleur ◽  
M.M. Linton ◽  
A. Rutkowski ◽  
M.E. Leach ◽  
M. Jain ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Forced Vital Capacity ◽  
Vital Capacity ◽  
Congenital Muscular Dystrophy ◽  
Postural Changes
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