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Achondroplasia is what most of us know as dwarfism or short stature. It is related to the specific structure of the skeleton – the bones of sick people are much shorter than those of healthy people, which means that they reach a maximum of 130 centimeters. Bone mutation occurs prenatally. The disease occurs in one in 26 births.
Achondroplasia – causes
It is a genetic disease, although parents do not need to be burdened with the gene. Scientists are still researching the exact causes of achondroplasia. Research conducted since the 60s shows that children whose fathers were more than 35 years old at the time of conception are most at risk of developing the disease. The mother’s previous lifestyle, which lasts until fertilization, may also be of importance. If – even in her youth – she took strong drugs or drugs that work on the endocrine and nervous systems, the risk that her child will be born with this disease increases. Especially when the mother was over 35 at the time of conception.
Achondroplasia – symptoms
The main symptom of the disease is short stature. People with achondroplasia are very low. Their arms and legs are very short and out of proportion to their normal size head. At the same time, they suffer from varus knees – they turn them inwards while walking, which makes their gait like a duck’s footsteps. Very often, every step hurts them. The torso, like the head, reaches the normal size of a healthy adult human being. The most common illnesses they suffer from are lordosis, Abnormal Muscle Syndrome, middle ear infections, obesity, joint contractures, and breathing problems.
Remember that this is a physical disability, not a mental disability. The sick develop intellectually in the same way as healthy people – their mental abilities are not worse.
Achondroplasia – treatment
The disease can be seen on ultrasound in the third trimester of pregnancy, thanks to which parents can prepare well for the treatment of their child and learn about its effects. How the treatment is carried out depends entirely on the patient’s health. Joint and bone surgeries, including leg lengthening procedures, are the most common treatments. The treatment process takes many years and should begin very early in life. The bones are first broken, then stretched and screwed, so they can be extended by up to 25 cm. After the operation, the patient is rehabilitated before he becomes fit. Additionally, the treatment includes medications – including growth hormone medications.