Muscle impairments in osteogenesis imperfecta: a narrative review

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Publicado en:JBMR Plus vol. 9, no. 8 (Aug 2025)
Autor principal: Ireland, Alex
Otros Autores: Orlando, Giorgio, Coussens, Marie, Calders, Patrick, Taipaleenmäki, Hanna, Hesse, Eric, Muhammad Kassim Javaid
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Oxford University Press
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Acceso en línea:Citation/Abstract
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022 |a 2473-4039 
024 7 |a 10.1093/jbmrpl/ziaf099  |2 doi 
035 |a 3254064270 
045 2 |b d20250801  |b d20250831 
100 1 |a Ireland, Alex  |u Department of Life Sciences, Manchester Metropolitan University , Manchester, M1 5GD , United Kingdom 
245 1 |a Muscle impairments in osteogenesis imperfecta: a narrative review 
260 |b Oxford University Press  |c Aug 2025 
513 |a Journal Article 
520 3 |a The aim of this review is to provide an overview of the available evidence on the effects of OI on skeletal muscle. This encompasses multiple components of muscle function, underlying biological and environmental factors, clinical and functional consequences, and relevant epidemiology and therapeutic options. OI is a rare connective tissue disorder causing bone fragility and skeletal deformity, and extraskeletal features, including cardiac and dental abnormalities and hearing loss. The condition is also characterized by pronounced deficits in multiple aspects of skeletal muscle function, including lower muscle strength and power, impaired balance, and greater fatigability, resulting from lower muscle mass and poor muscle quality. These deficits have important implications for multiple aspects of health and general function, including mobility, fall and fracture risk, and the ability to carry out activities of daily living. The muscle weakness and impaired function in OI appear multi-factorial in origin, and factors including deficits in sensory, ventilatory, and metabolic function may compound those observed in muscle mass and quality. Little is known about the epidemiology of muscle in OI, with the exception that more severe OI types are associated with greater impairments in function and mass. Consideration should be given to which aspects of muscle health and function are most relevant for individuals with different OI types. There is a limited evidence base for interventions to improve muscle in OI, and current findings from physical activity and pharmacological therapies are mixed. Muscle represents an important and under-researched area of health and function in OI. 
653 |a Bone strength 
653 |a Physical activity 
653 |a Muscle strength 
653 |a Muscle function 
653 |a Epidemiology 
653 |a Activities of daily living 
653 |a Hearing loss 
653 |a Musculoskeletal system 
653 |a Skeletal muscle 
653 |a Osteogenesis imperfecta 
653 |a Environmental factors 
653 |a Connective tissue diseases 
700 1 |a Orlando, Giorgio  |u Department of Sport and Exercise Sciences, Manchester Metropolitan University , Manchester, M1 7EL , United Kingdom 
700 1 |a Coussens, Marie  |u Department of Rehabilitation Sciences and Physiotherapy, Ghent University , Ghent, 9000 , Belgium 
700 1 |a Calders, Patrick  |u Department of Rehabilitation Sciences and Physiotherapy, Ghent University , Ghent, 9000 , Belgium 
700 1 |a Taipaleenmäki, Hanna  |u Institute of Musculoskeletal Medicine, LMU University Hospital, LMU Munich , Munich, D-80539 , Germany 
700 1 |a Hesse, Eric  |u Institute of Musculoskeletal Medicine, LMU University Hospital, LMU Munich , Munich, D-80539 , Germany 
700 1 |a Muhammad Kassim Javaid  |u Oxford NIHR Musculoskeletal Biomedical Research Unit, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford , Oxford, OX3 7HE , United Kingdom 
773 0 |t JBMR Plus  |g vol. 9, no. 8 (Aug 2025) 
786 0 |d ProQuest  |t Health & Medical Collection 
856 4 1 |3 Citation/Abstract  |u https://www.proquest.com/docview/3254064270/abstract/embedded/H09TXR3UUZB2ISDL?source=fedsrch 
856 4 0 |3 Full Text - PDF  |u https://www.proquest.com/docview/3254064270/fulltextPDF/embedded/H09TXR3UUZB2ISDL?source=fedsrch