Hi everyone! This is the first article in our orthopedic series, where we highlight different orthopedic diseases in the body! Happy Reading!
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Achondroplasia is a disorder which affects bone growth and prevents the changing of cartilage, such as long bones of the arms and legs. Specifically, the typical term used to associate this disorder is called “Dwarfism”, which limits the range of motion at the elbows, head size, small fingers, and capability of decision making. In addition, it causes health complications such as an interruption of breathing (apnea), an increase of ear infections, an inward curve of the lumbar spine, and obesity.
Figure 1 and 2: Examples of the difference in regular individuals versus Achondroplasia individuals.
The disorder’s origins are related to the genetic changes in the FGFR3 gene, where the inheritance is autosomal dominant. Basically, the term autosomal defines how the gene is located on any chromosome except the X or Y chromosome, where the FGFR3 gene instructs to make protein necessary for skeletal development. However, if there are mutations developed in the gene itself, it causes the FGFR3 protein that creates bone growth to be interfered.
Figure 3: Example of the FGFR3 gene mutated
In general, a child with such a condition will likely have the physical characteristics of a short stature, short arms and legs in comparison to its height, a disproportionate head, an abnormally large forehead, and an underdeveloped area of the forehead and upper jaw. As of this moment, there is no cure developed for achondroplasia and instead, most treatments from neuroscientists are aiming to relieve complications from the symptoms that cause the disorder. A testimony from CNN News, Cara Reedy, explains how despite the general public saying, “Isn’t she cute?” But sometimes it was more cruel and darker than expected. In fact, many even whisper, “midget”. Sometimes, she feels her existence is a joke to them and that she feels isolated.
“I have the same thoughts, feelings and desires. The world treats me as if there is something wrong with me. It took me a while not to trust the world’s opinion” (Cara Reedy).
Figure 5: An example of children with diagnosed dwarfism
For example, a treatment currently being tested is the narrowing of the spinal cord, which can be surgically treated to relieve the pressure of the lumbar spine. Similarly, it can also lower stress levels and pressure near the brainstem, where the choice of neurological procedures depends on the patient’s diagnosis. While treatments are still currently progressing in minimizing discomfort and pain, patient directive care and assistance is handling proper ways to help individuals with achondroplasia to take care of their mental health. Hence, we are still trying to find ways to help ensure the future is secured for individuals that have achondroplasia as a result.
Figure 6: An example of the surgery treatment that is fixing the lumbar spine
Thanks for reading this article on Dwarfism! We hope you gained knowledge and learned more about this disorder, and about different treatment methods that have emerged.
Until next time,
Arushi and the Writing Committee!
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