Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I

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Muscle anatomy and dynamic muscle function in osteogenesis imperfecta type I.

CONTEXT Results of previous studies suggested that children and adolescents with osteogenesis imperfecta (OI) type I have a muscle force deficit. However, muscle function has only been assessed by static isometric force tests and not in more natural conditions such as dynamic force and power tests. OBJECTIVE The purpose of this study was to assess lower extremity dynamic muscle function and m...

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Osteogenesis imperfecta (OI) is mainly characterized by bone fragility but muscle abnormalities have been reported both in OI mouse models and in children with OI. Muscle mass is decreased in OI, even when short stature is taken into account. Dynamic muscle tests aiming at maximal eccentric force production reveal functional deficits that can not be explained by low muscle mass alone. However, ...

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CONTEXT Osteogenesis imperfecta (OI) type I is a heritable bone fragility disorder that is caused by mutations affecting collagen type I. We recently showed that patients with OI type I frequently have muscle weakness. As muscle force and bone mass are usually closely related, we hypothesized that muscle weakness in OI type I could contribute to increase bone mass deficit in the lower extremiti...

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A 15-year-old male patient was admitted to hospital having experienced repeated fractures over the previous three years, predominantly due to falling down or overexertion. The clinical signs and radiological features, such as recurrent fractures, blue sclera and low bone mineral density (BMD) level, all led to the diagnosis of a mild form of osteogenesis imperfecta (OI) type I. The patient bega...

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ژورنال

عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism

سال: 2014

ISSN: 0021-972X,1945-7197

DOI: 10.1210/jc.2013-3209