There is a rare disease that affects the spine and ribs known as spondylothoracic dysostosis. At ICAC we know how worrying it can be for patients to have a diagnosis of a disease they are unaware of. Therefore, we are always willing to explain and accompany you throughout the entire process.
What is spondylothoracic dysostosis?
Spondylothoracic dysostosis is a rare genetic disease, and is often misunderstood or unknown by many people. This condition It is characterized by the presence of anomalies in the vertebrae and ribs. These malformations can lead to respiratory problems and/or heart problems, significantly affecting people's quality of life. Additionally, it can cause pain and limitations in mobility.
Although there is no cure, patients can perform various treatments to improve your quality of life and prevent serious complications. Treatments include physical therapy, orthopedics and surgery. It is extremely important that patients receive regular medical care to control symptoms and avoid complications. Furthermore, it is essential that patients and their families are adequately informed about the disease in order to manage it appropriately and have good control over it.
Genetic origin and causes of spondylothoracic dysostosis
This disease is caused by an alteration in the genes that control the development of vertebrae and ribs, which can lead to a malformation of the spine and ribs during pregnancy.
Several genes have been identified as playing an important role in the development of this disease, and mutations can vary from one family to another. In particular, it is known that the mutation of genes such as DLL3, responsible for the formation of vertebrae, or MESP2 and LFNG, involved in the formation of ribs, are the main ones involved in the development of this disease.
Main symptoms of spondylothoracic dysostosis
The severity of the disease can vary from person to person, meaning symptoms may be different for each patient. One of the most common symptoms is a abnormal curvature in the back, which can cause pain, posture problems, and difficulty breathing. Sometimes these breathing problems are aggravated by short or missing ribs.
Additionally, they may experience other symptoms such as paleness and fatigue, making their daily routine difficult. It is important for both patients and those around them to be alert to new symptoms as prevention of complications is crucial.
It is important to keep in mind that the severity of diseases can affect each person differently.
Diagnostic Tests to Detect Spondylothoracic Dysostosis
Despite being a genetic disease, its diagnosis is not based exclusively on genetic tests. Instead, a comprehensive approach is used that includes evaluating symptoms and performing diagnostic tests.
In order to diagnose this disease, it is necessary to perform a physical evaluation of the patient as well as images, such as x-rays, CT scans and MRIs.
With these tests it is possible to detect anomalies that are characteristic of this disease, such as vertebrae and ribs. X-rays can show a decreased space between the vertebrae and ribs, while CT scans and MRIs can more accurately see more affected structures.
Treatment for spondylothoracic dysostosis
Depending on the severity and symptoms of the patient, different treatments are performed for this condition. In some cases, no specific treatment may be necessary, and those affected can lead a normal life with appropriate medical follow-up. However, in other cases, treatment may be necessary to control symptoms and prevent complications.
In the most severe cases of this disease Surgical treatment may be necessary to correct abnormalities found in the spine and ribs. The most used techniques to perform this surgery are osteotomy, spinal fusion and spinal expansion.
It is important to note that it is a complex intervention and must be performed with a medical team specialized in orthopedic surgery.
Evolution of spondylothoracic dysostosis after surgery
Fortunately, for patients who have had their quality of life affected by this disease, Surgery is an excellent option to stop its progress and relieve the symptoms it causes.
One of the main benefits of surgery is that it can achieve a notable improvement in patients' quality of life. After the intervention, it is common to notice a significant reduction in symptoms such as pain and muscle stiffness, allowing patients to perform daily tasks more easily.
Furthermore, surgery can prevent the appearance of serious complications, how the decrease in lung function. This is of utmost importance since without correct treatment, mobility and respiratory function can be lost.
At ICAC we can accompany you and advise you on how to treat spondylothoracic dysostosis, providing you with all the necessary information so you can make the right decisions. If you have any concerns, do not hesitate to book an appointment so our professionals can help you.
