- Osteogenesis Imperfecta (Brittle Bone Disease)
- Introduction
- Osteogenesis imperfecta also referred to as brittle bone disease is one of the common diseases associated with causing failure in the production of collagen. The significant role of collagen, which is a protein, is to provide support to the human body. Collagen appears in several types in the body. However, the most common known and abundant one is referred to as type I collagen. This form of collagen is found in various different part of the body. Most of the parts that type I collagen tends to appear include sclera of the eye and on the teeth. Moreover, the collagen also tends to appear on the ligaments of a patient. I would like to discuss more about diagnosis and the treatment of this disease.
- Diagnosis of Osteogenesis Imperfecta
- The three common methods of diagnosis that medical (Cassidy & Allanson, 2011) professions conduct in relation to this disease include clinical, prenatal and differential diagnosis. In order to make a perfect diagnosis of this disease, a medical profession may opt to consider carrying out certain procedures. One of the procedures is to conducting or getting the knowhow of patient’s complete medical history. The second procedure in diagnosing the disease is to conduct a physical exam (Alexander & Matthews, 2009). The medical profession may also opt to make radiographic findings. Then the medical profession is required to make certain tests. Some of the most common test to make in relation to this disease include biochemical or collagen test (Cassidy & Allanson, 2011). The biochemical test entails examining collagen electrophoretic migration. This diagnosis helps in determining various defects that might appear in synthesis or secretion. The other test is known as molecular or DNA test. Moreover, in relation to the diagnosis of this disease, it is necessary to note that a medical profession can be able to make proper diagnosis while depending on the clinical features. However, this is not always possible because some cases related to the disease often require further diagnosis in order to be sure on what to address (Cassidy & Allanson, 2011).
- Apart from the clinical diagnosis for the disease, the other method applied for the same process is known as prenatal (Alexander & Matthews, 2009). The most important factor to note on prenatal diagnosis is that it can be accomplished by application of ultrasound or invasive method. Another significant issue that everyone needs to understand concerning prenatal diagnosis is that it ultrasonography is the only option that medical professions can apply especially when they cannot be able to get clear information relating to the gene defect (Cassidy & Allanson, 2011).
- The other diagnosis method for osteogenesis imperfecta is known as differential (Cassidy & Allanson, 2011). This method of diagnosis depends on the patient’s age. Most of the medical professions use this method for type I and IV of this disease especially when referring to child abuse (Cassidy & Allanson, 2011).
- Treatment of Osteogenesis Imperfecta
- On the issue of treatment of this disease, it is well to note that no cure has been identified to date. However, medical professions conduct various significant procedures on a patient in order to promote and maintain optimal function (Cassidy & Allanson, 2011). In order to accomplish this obligation, an outlined program assists the affected children. One of the procedures in the program entails early child intervention. When making early interventions, it is necessary to consider and include lessons necessary for caregivers. These lessons include infant handling and positioning (Cassidy & Allanson, 2011). The other procedure is muscle strengthening of the child. Moreover, aerobic conditioning is necessary. Children with the disease require support aids like wheelchairs. Another significant issue to note is that surgical treatment is also available to correct limb deformity (Cassidy & Allanson, 2011).
- Conclusion
- According the above information, I believe that everyone now clearly understands osteogenesis imperfecta disease. Moreover, I believe that everyone is now acknowledged on various diagnosis method related to this disease. Just to make a quick reminder, the diagnosis methods include clinical, prenatal and differential. The other significant issue I have addressed relates to the treatment. It is clear that treatment of this disease entails taking care of the young ones. Moreover, through the help of technology surgical treatments are available.
- References
- Alexander, M. A., & Matthews, D. J. (2009). Pediatric rehabilitation: Principles and practice. New York: Demos.
- Cassidy, S. B. & Allanson, J. E. (2011). Management of Genetic Syndromes. New York: John Wiley & Sons.
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