Camurati-Engelmann disease is a rare genetic disorder characterized by progressive bone thickening and muscle weakness. It is estimated to affect approximately 1 in every 1 million individuals worldwide. The prevalence of this condition is extremely low, making it a rare disease. Symptoms usually manifest in childhood or adolescence and can vary in severity. Early diagnosis and management are crucial to alleviate symptoms and prevent complications. Genetic counseling and support groups can provide valuable resources for individuals and families affected by Camurati-Engelmann disease.
Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare genetic disorder that affects the skeletal system. It is characterized by excessive bone formation, particularly in the long bones of the arms and legs. The prevalence of this condition is extremely low, making it a rare disease.
Due to its rarity, accurate prevalence data is limited. However, it is estimated that Camurati-Engelmann disease affects approximately 1 in every 1 million individuals worldwide. The condition is thought to be inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the disease-causing gene mutation to their children.
Camurati-Engelmann disease typically manifests in childhood or adolescence, with symptoms including bone pain, muscle weakness, and fatigue. As the excessive bone growth progresses, it can lead to various complications such as limb deformities, joint stiffness, and even neurological problems in some cases.
Although there is currently no cure for Camurati-Engelmann disease, treatment focuses on managing symptoms and improving quality of life. This may involve the use of pain medications, physical therapy, and in severe cases, surgical interventions to correct bone abnormalities.