Recently, cases of spondyloepiphysial dysplasia have become more frequent. This is a set of diseases that disrupt the growth of bone tissue in the human body. Spondyloepiphyseal dysplasia is detected during x-ray studies and is divided into three main groups:
- Plastyspondylia of a generalized form.
- Epiphysic dysplasia of a multiple form.
- Epiphyseal-metaphysical dysplasia.
Features of the disease
In people with this disease, compacted vertebrae appear that take an irregular shape. This can be detected on a radiograph. Spondyloepiphyseal dysplasia may occur due to some pathologies of the acquired spine. Therefore, in order to identify the disease, it is necessary to compare several X-ray images that were taken at different ages.
The main symptom of the disease is a decrease in the length of the limb (arms and legs). The disproportionate size of the shoulder and hip results in this. Spondyloepiphyseal dysplasia does not affect the foot and hand, so they are of normal size. Sometimes there is a deformation of the feet.
Symptoms of Dysplasia
The disease can be detected by the following symptoms:
- The neck stops growing and becomes short.
- Spinal mobility decreases.
- There is an infringement of the brain (spinal cord).
- Compression of the roots of nerve endings.
- Kyphosis develops.
- The chest is barrel-shaped.
- Cleft in the sky.
- The expressed myopia.
These pathologies over time provoke some changes. These include:
- Spinal curvature.
- Lordosis pronounced form.
- Deformation of the knee joint of the varus or valgus form.
Myopia may also occur with a high predisposition to changes in the retina of a degenerative form.
Causes of spondyloepiphysial dysplasia
The main factor is considered a genetic predisposition by which spondyloepiphyseal dysplasia of the extremities appears. The reasons may be different. These include:
- Genetic.
- Inherited.
- Incorrect load on the body.
If spondyloepiphysic dysplasia of the upper and lower extremities appeared at an early age, then this happened due to an improperly distributed load on the skeleton of the body. If you managed to notice it in the initial stages, then there are good chances of eliminating it.
The diagnosis will never be made on the basis of a single image with altered vertebrae, because they can indicate the presence of other diseases of the spine. The decision is made on the basis of several pictures that were taken over time at different ages. Only in this way can doctors fully see the picture of the disease.
Diagnosis of dysplasia
The earlier spondyloepiphyseal dysplasia of the upper and lower extremities was detected, the higher the likelihood of it being cured.
Doctors diagnose in several ways.
These include:
- Examination of the patient by doctors (neonatologist, orthopedist and surgeon).
- X-ray of the joints of the arms and legs.
- Ultrasound (ultrasound examination).
- MRI (magnetic resonance imaging).
These detection methods are considered the most informative. They help specialists see the disease completely and avoid mistakes when making a diagnosis.
If spondyloepiphyseal dysplasia is detected in infancy, then the child has a practically 90% chance of recovery.
Disease treatment
Spondyloepiphyseal dysplasia of the limbs can be treated in different ways. They depend on the stage of the disease and age.
In newborns and infants, treatment is carried out using special orthopedic appliances. They strengthen and fix the joints and fix the ligamentous apparatus. This allows you to achieve fixation, which prevents their deformation.
Sometimes it happens that treatment in this way does not bring the desired result, then the child under general anesthesia is corrected with dislocations and plaster casts are applied to fix it.
If the patient has a complicated case, then surgical intervention is necessary. It is also used when a child reaches 2-3 years of age. After the operation and with a mild manifestation of the disease, it is necessary to regularly exercise therapy (physiotherapy exercises) and wear special restraints and corsets.
The most effective treatment is carried out in a complex. Doctors recommend physiotherapy exercises to combine with special massages.
Important: people over twenty years old with a diagnosis of spondyloepiphyseal dysplasia are strictly forbidden to constantly load the body and bone apparatus.
Life expectancy and further prognosis
When spondyloepiphyseal dysplasia of the upper and lower extremities was detected and treated in a timely manner, the prognosis for future life is favorable. If the disease was discovered late, then the disease may recur periodically (relapses).
In children at an older age (8–18 years), inflammation can begin in the cartilage tissues of the joints, and this, in turn, will significantly complicate the treatment, and the chances of getting rid of the disease will be very small.
If the treatment has yielded results and the person got rid of the disease, then he will be able to lead an absolutely normal lifestyle. If the child is cured of the disease, then he will continue to grow and develop without visual and internal pathologies and deviations.
Preventative measures
Spondyloepiphyseal dysplasia of the extremities is most often a congenital disease, the development of which is almost impossible to predict. Therefore, it is impossible to apply preventive measures.
In order to avoid the onset of the disease in a newborn and an infant, it is necessary to limit the load on its skeleton and body. To do this, you need to monitor his position and not sit down ahead of time.
To reduce the chances of emergence and development of the disease, people who are predisposed to its appearance should not choose a job in which they will have to remain in one position for a long time.