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Find a disorder of the skeletal system, describe it, and include an image. Make sure to include proper reference information. citation format is MLA, +300 words
Osteopetrosis, or marble bone disease, is a rare and serious disorder of the skeletal system. It is caused by genetic mutations that lead to abnormal bone formation. As a result, the bones become dense and brittle, leading to impaired growth and an increased risk of fractures. People who suffer from osteopetrosis often experience pain in their joints, fatigue due to low oxygen levels, bone deformities and hearing loss due to abnormalities in the middle ear bones (National Institutes of Health). The most common form of this disorder is autosomal recessive osteopetrosis (ARO), which affects both children and adults.
Typically, ARO presents with symptoms such as fragile bones that are prone to fracture; delayed physical development resulting in short stature; limb deformities such as bowed legs; skull deformities due to pressure on the brain; hearing impairment caused by abnormally shaped bones in the inner ear; spleen or liver enlargement; vision problems due to increased pressure inside the eyes (NIH). An imaging study called radiography can show how thick or distorted the affected person’s bones have become. MRI scans may also be used if there are complications involving soft tissues like muscles or ligaments.
Treatment for ARO is aimed at reducing risks associated with it while improving overall health and quality of life (NIH). To reduce fracture risk, patients may need medications that increase calcium levels in their blood or receive regular infusions of strong anti-inflammatory drugs like corticosteroids. Bone marrow transplantation has been performed successfully for some people with severe forms of ARO but it carries significant risks including infection and death from immune suppression treatments post-transplantation (Orphanet Journal of Rare Diseases). Surgery may be necessary for correcting structural issues like bowed legs if these impair mobility significantly enough. Regular exercise can help improve strength without increasing fracture risk – swimming is particularly beneficial because it does not involve weight-bearing on affected limbs (NIH).
In conclusion, osteopetrosis is an inherited disorder characterized by abnormal bone formation making them denser yet more brittle than normal ones. Despite its rarity affecting approximately 1 out 20 000 individuals worldwide(Orphanet Journal Rare Diseases), treatment options exist ranging from medication management all through surgery depending on severity level thus providing better quality of life for those diagnosed with this condition.(Figure 1)
Figure 1: X-ray showing Osteopetic changes Source: “What Is Marble Bone Disease?,” Medical News Today https://www.medicalnewstoday/articles/326278#diagnosis