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Juvenile Paget's disease is a condition impacting normal bone development. The condition leads to bones that are abnormally large, deformed, and prone to fractures.
The symptoms of juvenile Paget's disease manifest in infancy or the early years of childhood. As the child's bones develop, they gradually weaken and become increasingly deformed. These bone abnormalities often worsen significantly during adolescence, a period of rapid bone growth.
Juvenile Paget's disease impacts the entire skeletal system, causing widespread pain in bones and joints. The skull bones tend to enlarge and thicken excessively, potentially leading to hearing impairment. The disease also affects the bones of the spinal column (vertebrae), and their deformation can result in vertebral collapse and spinal curvature abnormalities. Furthermore, the long bones of the legs, which bear weight, tend to bow and are susceptible to fractures, hindering the ability to stand and walk.
The inheritance pattern of this disease is autosomal recessive. This means that a mutation must be present in both copies of the disease gene within each cell for the condition to develop. Individuals with autosomal recessive disorders inherit one copy of the mutated gene from each parent, who are typically carriers of the gene but do not exhibit any symptoms of the condition themselves.
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