Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3

Abstract Background: Respiratory complications are the most important cause of morbidity and mortality in Spinal Muscular Atrophy (SMA). Respiratory muscle weakness results in impaired cough, recurrent respiratory tract infections and finally respiratory failure. We assessed longitudinal patterns of measurements of respiratory muscle strength in a national cohort of treatment-naïve children and adults with SMA, hypothesizing a continued decline of respiratory muscle strength parameters throughout life. Methods: We measured Maximal Expiratory and Inspiratory Pressure (PEmax and PImax), Sniff Nasal Inspiratory Pressure (SNIP), Peak Expiratory Flow (PEF), and Peak Cough Flow (PCF) in treatment-naïve patients. We used both cross-sectional and longitudinal data in mixed-models to analyze natural history patterns. Results: We included 2756 measurements of respiratory muscle function from 80 treatment-naïve patients with SMA types 1c-3b. Both PEmax and PImax were significantly lower in more severe phenotypes. SNIP was low in nearly all patients, most pronounced in more severely affected patients. PEmax was low from early childhood onwards in patients with SMA type 1c–3a. PEF decline below 80% of predicted values was observed in early childhood in SMA types 1c-2 and in adolescence in patients with type 3a. Annual decline was linear (1-2%/year). All but type 3b patients had lowered PCF. Patients with types 2b and 3a had PCF levels between 160 and 270L/min, those with type 2a around 160L/min and patients with type 1c well below 160L/min. Conclusions: There are clear differences in respiratory muscle strength and its progressive decline between SMA types. We observed lower outcomes in more severe SMA types. Particularly PEmax and PEF may be suitable outcome measures for follow-up of patients with SMA. PEmax had the highest discriminative capacity and PEF declined in a rather linear pattern in all SMA types. PEmax was even low in patients with normal lung volumes. These natural history data may serve as a reference for longer-term treatment efficacy assessments.

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Pulmonary Function Test Changes and Respiratory Muscle Strength Trends in Spinal Muscular Atrophy Patients Receiving Nusinersen Treatments

Case Medical Research ◽

10.31525/ct1-nct04050852 ◽

2019 ◽

Author(s):

Keyword(s):

Muscle Strength ◽

Pulmonary Function ◽

Spinal Muscular Atrophy ◽

Pulmonary Function Test ◽

Respiratory Muscle ◽

Muscular Atrophy ◽

Respiratory Muscle Strength ◽

Function Test

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Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy

Pediatric Neurology ◽

10.1016/j.pediatrneurol.2017.04.013 ◽

2017 ◽

Vol 73 ◽

pp. 78-87.e1 ◽

Cited By ~ 10

Author(s):

Sonia Khirani ◽

Ivana Dabaj ◽

Alessandro Amaddeo ◽

Jorge Olmo Arroyo ◽

Jacques Ropers ◽

...

Keyword(s):

Muscle Strength ◽

Spinal Muscular Atrophy ◽

Respiratory Muscle ◽

Muscular Atrophy ◽

Respiratory Muscle Strength

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Effects of magnetically controlled growing rods surgery on pulmonary function in young subjects with spinal muscular atrophy type 2 and other neuromuscular scoliosis

Journal of Neurosurgical Sciences ◽

10.23736/s0390-5616.17.04052-8 ◽

2020 ◽

Vol 64 (3) ◽

Author(s):

Luca Colombo ◽

Carlotta Martini ◽

Chiara Bersanini ◽

Francesca Izzo ◽

Jorge H. Villafañe ◽

...

Keyword(s):

Pulmonary Function ◽

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Neuromuscular Scoliosis ◽

Spinal Muscular Atrophy Type ◽

Growing Rods ◽

Young Subjects ◽

Magnetically Controlled Growing Rods

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Heart Rate Variability And Respiratory Muscle Strength In Patients With Type Ii Diabetes Practicing Pilates: A Randomized Clinical Trial

Current Diabetes Reviews ◽

10.2174/1573399817666210928143752 ◽

2021 ◽

Vol 17 ◽

Author(s):

Samara Sousa Vasconcelos Gouveia ◽

Guilherme Pertinni de Morais Gouveia ◽

Leydnaya Maria Souza ◽

Bruno Cunha da Costa ◽

Gustavo Henrique Melo Sousa ◽

...

Keyword(s):

Clinical Trial ◽

Heart Rate ◽

Heart Rate Variability ◽

Muscle Strength ◽

Normal Distribution ◽

Randomized Clinical Trial ◽

Respiratory Muscle ◽

Control Group ◽

Respiratory Muscle Strength

Purpose: This study aimed to analyze the effect of a Pilates protocol on respiratory muscle strength and heart rate variability (HRV) in patients with type 2 diabetes. Method: A randomized clinical trial (RBR-2gc2qj) was conducted with a type 2 diabetic target population. Patients practiced the Pilates protocol for 8 weeks, with two visits per week. The variables tested were maximum inspiratory pressure (MIP), maximum expiratory pressure (MEP), and HRV (time and frequency domains). All variables were tested for normal distribution. Using SPSS 21.0, analysis of variance was performed for variables with normal distribution, and the Wilcoxon and Friedman tests were used for variables that did not show a normal distribution, with a 5% significance level. Results: Forty-four participants were included in the study (intervention group: 22; control group: 22; mean age: 61.23 ± 8.49 years), most of whom were female (77.3%), married or in a consensual union (59.1%), had complete literacy (31.8%), and had an average body mass index of 26.96 ± 4.35 kg/m2. There were no significant differences in MIP and MEP before and after the protocol between the intervention and control groups. Regarding HRV, there were significant differences in autonomic modulation, especially between the moments before and during exercise and between the moments during and after exercise; however, it was not possible to determine which system (sympathetic or parasympathetic) is most involved in these changes. Conclusion: The exercise protocol based on the Pilates method did not alter respiratory muscle strength but promoted changes in HRV, especially between the moments before and during exercise and during and after exercise.

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Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series

Children ◽

10.3390/children8111039 ◽

2021 ◽

Vol 8 (11) ◽

pp. 1039

Author(s):

Minsu Gu ◽

Hyun-Ho Kong

Keyword(s):

Spinal Muscular Atrophy ◽

Motor Function ◽

Daily Living ◽

Muscular Atrophy ◽

Case Series ◽

Manual Dexterity ◽

Gross Motor ◽

Spinal Muscular Atrophy Type ◽

Gross Motor Function

Although nusinersen has been demonstrated to improve motor function in patients with spinal muscular atrophy (SMA), no studies have investigated its effect on fine manual dexterity. The present study aimed to investigate the ability of nusinersen to improve fine manual dexterity in patients with SMA type 2. A total of five patients with SMA type 2 were included. The Hammersmith Functional Motor Scale (expanded version) (HFMSE) and Purdue Pegboard (PP) tests were used to evaluate gross motor function and fine manual dexterity, respectively, until 18 months after nusinersen administration. HFMSE scores improved by 3–10 points (+13–53%) in all patients following nusinersen administration. PP scores also improved in all patients, from 4 to 9 points (+80–225%) in the preferred hand and from 3 to 7 points (+60–500%) in the non-preferred hand. These results suggest that nusinersen treatment improved both gross motor function and fine manual dexterity in children with SMA type 2. Addition of the PP test may aid in evaluating the fine manual dexterity essential for activities of daily living in these patients.

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