Although the treatment of achondroplasia It is not specific nor does it cure the disease.brings together a series of techniques and means to ensure the well-being of the patient, as far as possible, and according to the severity of the complications that arise.
Usually, when a child has achondroplasia, they don’t need special medical care. However, it is recommended to track the disease. As, The treatment of achondroplasia is really oriented towards combating the possible complications that arise.
Patient care will mainly be entrusted to a multidisciplinary team of the following specialists:
- Pediatrician.
- Dentist.
- geneticist.
- Orthopedic.
- Nutritionist.
Complications and treatment of achondroplasia
Children and adults with achondroplasia are not exempt from suffering from certain conditions. These are the most important:
- hydrocephalus.
- Spinal cord compression.
- Breathing problems (tonsils or adenoids are removed).
- kyphosis. Deformation of the spine, which can be corrected with orthopedic devices.
- Hearing loss from frequent infections (small drainage tubes are placed in the middle ear).
Some tests that should be performed, both for the prevention of complications and for disease monitoring are:
- Check your height, weight and head size using standardized growth curves for achondroplasia.
- Perform periodic neurological exams determine the presence of hydrocephalus.
- If you notice weakness in your trunk, your doctor should evaluate possible column deformations.
- If the curvature of the legs is excessive, the pediatrician will definitely send the patient to consult a pediatric orthopedic surgeon.
Using specific growth charts of the head and body, the doctor will be able to obtain the data necessary to carry out the relative periodic monitoring. This way, complications can be treated in time.
Growth hormone
Pharmacological treatment of achondroplasia includes only the somatotropinTO or growth hormone and is intended to increase the height of affected children. However, no results have yet been shown on this treatment and it is still being studied.
Surgery
The surgical option as a treatment for achondroplasia it is chosen in the event that this disease has serious repercussions psychology in the child. This intervention consists in lengthening the height of the patient, acting on his extremities.
To perform this surgery, a minimal fracture is caused in a specific area of ​​the bone. And thanks to an external fixator adapted to the bone that is where the fracture is, it doesn’t heal. With this, it is achieved that the bone is stretched through the fixator by approximately one millimeter per day until it reaches the appropriate length, normally they stretch by 30-35 centimeters.
Once this height is reached, the fixator is maintained until complete consolidation of the bone and rehabilitation is performed so that the bone and soft tissue recover or acquire normal characteristics. They stretch: tibiae, fibulae, femurs, humeri. Where normally the lower limbs lengthen by about 30 centimeters and the upper limbs by about 10 centimeters.
The ultimate goal of this treatment of achondroplasia is to avoid as much as possible all pathologies secondary to the disease; However, It is a very controversial topic since they are very long and very painful interventions. It is recommended that, if they are performed, they are performed in centers with a lot of experience.
Prenatal care for the mother
If the pregnant mother is affected by this disease, it is recommended that the doctor teach you to do a variety of exercises to control breathing during the third trimester of pregnancy.
In addition to these exercises, one will be performed pulmonary function studies because you can develop breathing problems at this stage of pregnancy.
Immediate neonatal care
Once the baby is born, it is extremely important that the pediatrician confirms the diagnosis through radiological studies and takes measurements of the different parts of the body such as the hand, the circumference of the skull and the length of the body.
It is important that after delivery, unless it is advised against due to a health problem in the baby, they receive the same care as any newborn.
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