Kamurati-Engelmann Disease

Camurati-Engelmann Disease: A rare hereditary disease that requires attention

Kamurati-Engelmann disease, also known as generalized hyperostosis, congenital systemic diaphyseal hyperostosis, progressive diaphyseal dysplasia, systemic hereditary osteosclerosis with myopathy, or Engelmann disease, is a rare genetic disorder that affects bone development and health. This condition is characterized by increased bone density, which leads to thickening of the bones and possible limitations in movement.

The name of the disease comes from the names of the two doctors who first described this pathology: the Italian physician Camurati and the Austrian surgeon Engelmann in the 20th century. However, this disease is also known by other synonyms indicated in the description.

Kamurati-Engelmann disease usually appears in childhood and has a variety of clinical manifestations. The main symptoms are increased fatigue, pain in bones and muscles, and limited movement in the joints. Children with this condition may also experience developmental delays and an unusual gait. In some cases, problems with vision and hearing may occur.

The cause of Camurati-Engelmann disease is associated with a mutation in the gene responsible for regulating bone growth and development. This genetic disorder is inherited, usually through dominant inheritance, meaning that children who inherit the mutation from one parent have a 50% risk of the disease.

The diagnosis of Camurati-Engelmann disease is based on clinical manifestations, physical examination, and bone radiography. Additional tests, such as genetic tests, may be done to confirm the diagnosis.

Treatment of Kamurati-Engelmann disease is aimed at relieving symptoms and improving patients' quality of life. Physical therapy and regular exercise can help strengthen muscles and improve joint mobility. The use of anti-inflammatory drugs and analgesics can help manage pain. In some cases, surgery may be required to relieve movement restrictions or correct bone abnormalities.

It is important to note that Kamurati-Engelmann disease is a chronic condition and requires long-term medical supervision. Regular consultations with an orthopedist and other specialists will help monitor the progression of the disease and tailor treatment to suit the patient's needs.

Although Camurati-Engelmann disease is a rare condition, there are organizations and communities that provide support to patients and their families. These resources help you share information, receive emotional support, and learn about the latest research and treatment approaches.

In conclusion, Camurati-Engelmann disease is a rare inherited disorder that affects bone development and health. It is characterized by increased bone density and can cause bone pain, limited movement, and other symptoms. Early diagnosis and comprehensive treatment can alleviate symptoms and improve the quality of life of patients. It is important to consult a doctor for further information and guidance if you suspect this condition.