Musculoskeletal disorders are a group of diseases that affect the bones, muscles, joints, and connective tissues. With more than 57 million visits to doctors’ offices in 2018, back pain was the most prevalent musculoskeletal disease for which people sought medical attention (Urits et al., 2019). This medical condition is identified when there has been lower back discomfort for at least three months. Chronic low back pain in certain people can develop over time into a complicated disorder that involves structural changes to the back as well as ongoing changes to the central nervous system’s anatomy and function.
Osteogenesis imperfecta (OI) is a rare hereditary condition of the connective tissues brought on by an anomaly in the production or processing of type I collagen (Tauer et al., 2019). OI sometimes referred to as brittle bone disease, is distinguished by a higher risk of bone fractures as well as a reduction in bone density. Other symptoms include short height, blue sclerae, and adulthood deafness. Milder symptoms include generalized laxity, hernias, easy bruising, and excessive sweating. Clinical signs might be modest with almost no symptoms or quite severe, leading to a higher perinatal death rate.
A physician will typically make a diagnosis of a musculoskeletal problem based on patient history and the findings of a physical examination. There may occasionally be a need for laboratory testing, imaging studies, or other screening tests to help the physician make or confirm a diagnosis. Back discomfort that lasts or recurs for more than three months and is accompanied by considerable functional impairment or emotional distress is classified as a chronic primary pain condition in the IASP chronic pain classification, which was accepted for ICD-11 unless the back pain is better explained by another diagnosis (Pangarkar et al., 2019). In contrast, osteogenesis imperfecta is diagnosed based on radiographic findings, bone biochemistry, bone mineral density (lumbar vertebra), and clinical and family history (Jovanovic et al., 2021). Four key clinical characteristics are typically present in patients, bone loss, increased bone fragility, blue sclera, defective dentine development, and loss of hearing.
References
Jovanovic, M., Guterman-Ram, G., & Marini, J. C. (2021). Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types. Endocrine Reviews, 43(1), 61–90. https://doi.org/10.1210/endrev/bnab017
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