Do children with mild to moderate osteogenesis imperfecta (OI) with abdominal muscle weakness have a higher incidence of pars defects? A physiotherapy pilot

2015 ◽  
Author(s):  
Emilie Hupin ◽  
Karen Edwards ◽  
Moira Chueng ◽  
Jeremy Allgrove ◽  
Catherine DeVile
Keyword(s):  
Osteogenesis Imperfecta ◽  
Muscle Weakness ◽  
Abdominal Muscle

scholarly journals Muscle contraction induces osteogenic levels of cortical bone strain despite muscle weakness in a mouse model of Osteogenesis Imperfecta

Bone ◽  
2020 ◽  
Vol 132 ◽  
pp. 115061 ◽  
Author(s):  
Alycia G. Berman ◽  
Jason M. Organ ◽  
Matthew R. Allen ◽  
Joseph M. Wallace
Keyword(s):  
Mouse Model ◽  
Osteogenesis Imperfecta ◽  
Muscle Contraction ◽  
Cortical Bone ◽  
Muscle Weakness ◽  
Bone Strain

scholarly journals Impact of Intrinsic Muscle Weakness on Muscle–Bone Crosstalk in Osteogenesis Imperfecta

2021 ◽  
Vol 22 (9) ◽  
pp. 4963
Author(s):  
Victoria L. Gremminger ◽  
Charlotte L. Phillips
Keyword(s):  
Skeletal Muscle ◽  
Osteogenesis Imperfecta ◽  
Muscle Weakness ◽  
Muscle Function ◽  
Critical Role ◽  
Connective Tissue Disorder ◽  
Bone Fragility ◽  
Skeletal Muscle Function ◽  
Skeletal Muscle Weakness

Bone and muscle are highly synergistic tissues that communicate extensively via mechanotransduction and biochemical signaling. Osteogenesis imperfecta (OI) is a heritable connective tissue disorder of severe bone fragility and recently recognized skeletal muscle weakness. The presence of impaired bone and muscle in OI leads to a continuous cycle of altered muscle–bone crosstalk with weak muscles further compromising bone and vice versa. Currently, there is no cure for OI and understanding the pathogenesis of the skeletal muscle weakness in relation to the bone pathogenesis of OI in light of the critical role of muscle–bone crosstalk is essential to developing and identifying novel therapeutic targets and strategies for OI. This review will highlight how impaired skeletal muscle function contributes to the pathophysiology of OI and how this phenomenon further perpetuates bone fragility.

scholarly journals Skeletal muscle weakness and mitochondrial dysfunction in the osteogenesis imperfecta murine (oim) model

2021 ◽  
Author(s):  
◽  
Victoria L. Gremminger
Keyword(s):  
Skeletal Muscle ◽  
Osteogenesis Imperfecta ◽  
Mitochondrial Dysfunction ◽  
Muscle Weakness ◽  
Mitochondrial Function ◽  
Mitochondrial Respiration ◽  
Type I Collagen ◽  
Bone Fragility ◽  
Type I ◽  
Skeletal Muscle Weakness

Osteogenesis imperfecta (OI), also commonly referred to as brittle bone disease, is a heritable connective tissue disorder occurring in roughly 1:15,000 births. OI arises as a result of mutations in the type I collagen genes, COL1A1 and COL1A2, approximately 85 [percent] of the time with the remaining 15 [percent] of cases arising from mutations in genes involved in posttranslational modification of type I collagen, osteoblast maturation or mineralization. OI is a heterogeneous disorder that can be classified into four major types with severity ranging from perinatal lethality to premature osteoporosis. As the name suggests, osteogenesis imperfecta, literally translating to imperfect bone formation, results in bone fragility with patients often experiencing many fractures throughout their lifetime. While bone fragility is the most prominent manifestation of OI, skeletal muscle weakness, cardiopulmonary complications, short stature, and craniofacial abnormalities are also common. There is currently no cure for OI and therapeutic options rely on mitigating symptoms, primarily through the use of bone anti-resorptive agents referred to as bisphosphonates. Although, current treatment options focus solely on bone health, skeletal muscle weakness is a common manifestation in OI, where 80 [percent] of patients with mild OI experience muscle force deficits, and with even higher percentages in patients with more clinically severe OI. Historically, OI muscle weakness was largely attributed to inactivity with recent studies highlighting its inherent nature in both patients and mouse models. Studies investigating the mechanisms by which skeletal muscle weakness arises in OI are limited, despite the large prevalence. My research sought to better understand OI muscle weakness primarily through the investigation of mitochondrial health in a mouse modeling a severe human type III OI (oim/oim), as mitochondria are important regulators of energy metabolism and overall cell health. We hypothesized that oim/oim mice, exhibiting severe skeletal muscle weakness would exhibit mitochondrial dysfunction suggesting a correlation between skeletal muscle and mitochondrial function. To test this hypothesis, we assessed mitochondrial function and content in the oim/oim mouse. One of our major findings was the observation that oim/oim mice exhibit [greater than] 50 [percent] reductions in gastrocnemius mitochondrial respiration rates relative to wildtype littermates. Additionally, we found that citrate synthase activity in oim/oim isolated gastrocnemius mitochondria was reduced relative to wildtype littermates. Furthermore, to determine if skeletal muscle mitochondrial function correlated with skeletal muscle severity, we evaluated mitochondrial respiration in a mouse model of mild OI (+/oim). We did not find differences between +/oim and WT gastrocnemius mitochondrial respiration suggesting that mitochondrial function does correlate with skeletal muscle function. Moreover, we did not observe changes in mitochondrial respiration in oim/oim liver and heart suggesting the mitochondrial dysfunction is not global in the oim/oim mouse. Additionally, we sought to investigate whole body metabolic alterations, as skeletal muscle comprises roughly 50 [percent] of body mass and is a significant contributor to the body's resting metabolic rate. We hypothesized that skeletal muscle mitochondrial dysfunction in the oim/oim mouse would lead to changes in metabolic parameters including altered substrate utilization, altered body composition, and changes in energy expenditure. Interestingly, we did not observe changes in substrate utilization, although we did note increased energy expenditure and subtle changes in body composition with oim/oim animals exhibiting reduced percentages of fat mass and increased percentages of lean mass relative to wildtype littermates. Overall, my research was the first to implicate mitochondrial dysfunction in the pathophysiology of OI using a mouse model of severe OI. This work has led to numerous studies in other mouse models evaluating mitochondrial function and energy metabolism. While there is more work to be done to further understand the mechanisms and correlation between mitochondrial dysfunction and skeletal muscle weakness in OI, this novel finding has initiated a new area of research in OI and has contributed to the overall understanding of OI muscle weakness.

Abdominal muscle weakness as a presenting symptom in GNE myopathy

2019 ◽  
Vol 59 ◽  
pp. 316-317 ◽  
Author(s):  
Ortal Barel ◽  
Elena Kogan ◽  
Menachem Sadeh ◽  
Nitzan Kol ◽  
Omri Nayschool ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Abdominal Muscle ◽  
Gne Myopathy

Muscle weakness as presenting symptom of osteogenesis imperfecta

2006 ◽  
Vol 165 (6) ◽  
pp. 392-394 ◽  
Author(s):  
Annemieke M. Boot ◽  
Rene F. M. de Coo ◽  
Gerard Pals ◽  
Sabine M. P. F. de Muinck Keizer-Schrama
Keyword(s):  
Osteogenesis Imperfecta ◽  
Muscle Weakness
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