Comparison of sitting and supine forced vital capacity in collagen VI‐related dystrophy and laminin α2‐related dystrophy

Meilleur, K.; Linton, Melody M.; Fontana, Joseph R.; Rutkowski, Anne; Elliott, J.P.; Barton, Mark; McGraw, Peter; Kokkinis, Angela; Donkervoort, Sandra; Leach, M.; Jain, Minal; Dastgir, Jahannaz; Collins, James J.; Szczesniak, Rhonda; Yang, Kelly; Sawnani, Hemant; Bönnemann, Carsten G.

doi:10.1002/ppul.23622

Cited by 19 publications

(7 citation statements)

References 34 publications

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“…Besides muscle weakness, the main contributors to disease burden in LAMA2-RD are respiratory insufficiency, feeding difficulties, joint contractures and scoliosis, with early restrictive pulmonary insufficiency being the most common cause of morbidity and mortality. [34][35][36] Here we first provide detailed analysis on progression of lung function in severe LAMA2-RD patients, over up to 12.8 years (Fig. 4A).…”

Section: Discussionmentioning

confidence: 99%

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

Zambon

Ridout

Main

et al. 2020

Ann Clin Transl Neurol

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Objective: To characterize natural history of Laminin-a2 related muscular dystrophies (LAMA2-RD) to help anticipating complications and identifying reliable outcome measures for clinical trial design and powering. Methods: We conducted a retrospective, single-center, cross-sectional and longitudinal study on 46 LAMA2-RD pediatric patients (37 families). Patients were seen at the Dubowitz Neuromuscular Centre, London between 1985 and 2019. Data were collected by case note reviews. Time-to-event analysis was performed to estimate median age at complications occurrence. Results: Forty two patients had complete deficiency of Laminin-a2 (CD) and four had partial deficiency (PD). Median age at first and last assessment was 2 years and 12.1 years, respectively. Median follow-up length was 7.8 years (range 0-18 years). Seven CD patients died at median age 12 years. One CD and two PD subjects achieved independent ambulation. We observed a linear increase in elbow flexor contractures in CD subjects. Thirty-two CD and one PD patient developed scoliosis, nine underwent spinal surgery. Twenty-two CD required nocturnal noninvasive ventilation (median age 11.7 years). CD subjects showed a 2.9% linear annual decline in forced vital capacity % predicted. Nineteen CD and one PD patient required gastrostomy insertion for failure to thrive and/or unsafe swallow (median age 10.9 years). Four CD patients had partial seizures. Mild left cardiac ventricular dysfunction and rhythm disturbances were identified in seven CD patients. Interpretation: This retrospective longitudinal study provides longterm natural history of LAMA2-RD. This will help management and identification of key milestones of disease progression that could be considered for future therapeutic intervention.

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Section: Discussionmentioning

confidence: 99%

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

Zambon

Ridout

Main

et al. 2020

Ann Clin Transl Neurol

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“…In addition, the focus of the current study was on FVC assessment in the seated position as a proxy of ventilatory pump impairment, which is a major limitation. Change of FVC from sitting to supine position is able to more sensitively detect ventilatory muscle dysfunction as compared with seated FVC alone 19 . In addition, other parameters, such as cough flow end-tidal CO 2 , are other important assessments that were not available for analysis.…”

Section: Discussionmentioning

confidence: 99%

“…Change of FVC from sitting to supine position is able to more sensitively detect ventilatory muscle dysfunction as compared with seated FVC alone. 19 In addition, other parameters, such as cough flow end-tidal CO 2 , are other important assessments that were not available for analysis. The clinical data and chart data review of this study also occurred before the routine availability of the NT5c1A antibody, which has been shown to predict more severe clinical phenotype.…”

Section: Discussionmentioning

confidence: 99%

Characterizing Ventilatory Muscle Dysfunction in Inclusion Body Myositis

Brokamp

Hurst

Hartog

et al. 2022

Am J Phys Med Rehabil

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Objective: Investigation of the frequency and progression of ventilatory muscle dysfunction in patients with inclusion body myositis, the most common myopathy after age of 50 yrs. Prior research is limited to case series and cross-section studies. Design: This is a retrospective review of pulmonary function tests, respiratory symptoms, and muscle strength testing. Results: Of the 54 patients reviewed (mean age: 65 ± 9 yrs and disease duration: 7 ± 7 yrs), the majority (n = 32, 59%) had restrictive forced vital capacity deficits at initial visit. Patients with reduced forced vital capacity showed higher prevalence of respiratory symptoms; but age, body mass index, and limb strength were similar when compared with patients without restrictive forced vital capacity. Mean rate of forced vital capacity decline of 0.108 l/yr in inclusion body myositis patients. Lower baseline limb strength correlated with longer disease duration and future forced vital capacity decline (eg, weaker patients experienced faster decline). Conclusions: Based on forced vital capacity, there is a high frequency of ventilatory pump muscle weakness in inclusion body myositis, which is associated with a higher burden of respiratory symptoms. Baseline strength may indicate risk of respiratory decline and need for vigilant screening. Importantly, ventilatory and limb muscle decline may not progress in a corresponding manner, highlighting the importance of pulmonary function surveillance.

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“…demonstrated three distinct natural history profiles for FVC% with a significantly higher annual rate of decline for patients with more severe collagen‐6‐deficient congenital muscular dystrophy (CMD; Ullrich type) compared with the intermediate and least severe (Bethlem type) subtypes. Additionally within a cohort collagen‐6‐deficient or merosen‐deficient CMD, FVC% was significantly different in moving from sitting to supine position (20% decline indicating diaphragm weakness) in the collagen‐6 but not the merosen‐deficient CMD patients 3 …”

Section: Volumementioning

confidence: 91%

Pulmonary function testing in patients with neuromuscular disease

Miller

Mayer

2020

Pediatric Pulmonology

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Progressive neuromuscular disease leads to muscle weakness or failure that produces loss of pulmonary function and clinical respiratory morbidity. Tracking pulmonary function in a practical and effective way is very important because it can help identify a stage of disease when a morbidity, such as inadequate airway clearance or respiratory failure, may be present. There are four general categories of pulmonary function outcome measures such as volume, flow, pressure, and gas exchange. These outcome measures have variable precision and accuracy in predicting clinical change, and practicality in performing them relative to age and condition. It is widely recommended to follow multiple measurements longitudinally and create an accurate and timely clinical picture. This manuscript will review the most commonly used and most practical measures for use in clinical practice and how they can help to assess morbidity, disease state, and help optimize patient management.

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Comparison of sitting and supine forced vital capacity in collagen VI‐related dystrophy and laminin α2‐related dystrophy

Cited by 19 publications

References 34 publications

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

Characterizing Ventilatory Muscle Dysfunction in Inclusion Body Myositis

Pulmonary function testing in patients with neuromuscular disease

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