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Scoliosis is a commonly heard of disease, but most people do not know many details about the disease. People think of it as “something that causes your back to be crooked” and while that is scary, there are many more details to unpack around this diagnosis.
Before we can dive into the genetics around scoliosis, readers should know more details about the actual disease.
According to the Mayo Clinic, scoliosis is a sideways curve of the spine that is abnormal as compared to the regular anatomical curvature of the spine.
Scoliosis is usually diagnosed when children are between 10 and 19 years old. That is why scoliosis is commonly screened for during childhood at a doctor’s appointment or by a school nurse.
Scoliosis can be diagnosed later in life as well. Other diseases such as cerebral palsy can be linked to scoliosis.
Mild cases are the most common and those require no treatment, but some cases of scoliosis can progress to severe and cause various other medical problems.
Severe cases can cause breathing problems as well as chronic back pain. As pictured below, there are various ways that the spine can curve and each way causes its own set of issues.
It is hard to tell in the picture, but there is generally a component of spinal twisting as well that further complicates the issues that scoliosis causes.
Signs of scoliosis can include:
● Uneven shoulder heights
● Uneven hip heights
● More prominent shoulder blade on one side versus the other
● More prominent rib cage on one side versus the other
● Uneven waist line including soft tissue
Symptoms of scoliosis include:
● Chronic low back pain
● Early onset arthritis
● Breathing issues
● Impacted GI function in severe cases
● Issues swallowing in severe cases
According to an article published in Current Genomics, yes, there is a strong likelihood that there is a genetic component to scoliosis.
“Familial risk values may be used to estimate and compare the genetic effects across diseases. Prior sibling risk studies of IS have reported 19% and 11.5% of siblings affected for ≥ 10, ≥ 20-degree curves, respectively, compared to population recurrence risks of ≤ 2%”
This means that because siblings do have a higher chance of both having scoliosis as compared to the general public, there is a strong likelihood that there is a genetic component to scoliosis.
On the other side, there is a chance that someone could have scoliosis and no one else in their family has had it.
The genetic component to scoliosis is multifactorial and at this point in time, not well understood or researched. While most in the medical community do agree that there is a genetic component, the exact information and details are not agreed upon.
Further research will be required. Once we can identify the genetic components around scoliosis, doctors and researchers will be able to create even better treatments for scoliosis in the future too.
Maybe someday in the future, an at home genetic test will be able to tell you if you have scoliosis or if you could pass it on to your child, but we aren’t there yet!
According to an article published in Current Genomics, “Autosomal dominant inheritance has been suggested from evaluation of single families or small family collection”.
Autosomal means that the gene could be located on one of the non-sex chromosomes. Dominant means that the child would only need to receive one of the mutate genes from one parent in order to have scoliosis.
There is also evidence to suggest that scoliosis might be controlled by more than one gene.
However, and this is a BIG however, there is inadequate research to prove this suggestion and parents should not be alarmed if they have scoliosis in their family.
If they wish, they should speak to their doctor and ask for a referral to a geneticist if possible in their area.
Scoliosis is more common in females than males in all age groups. According to the American Academy of Orthopaedic Surgeons, idiopathic scoliosis occurs ten times more often in girls than it does in boys over the age of 10.
Another group of doctors at Indiana University Health revealed 10 percent of women in the US have scoliosis compared to only 5 percent of men.
The same study also noted that girls are up to eight times more likely to have severe curvatures compared to boys.
The reasoning behind these statistics is not crystal clear. One theory is girls have a big growth spurt right before puberty while boys tend to grow more after puberty.
Girls also tend to mature their skeletal size sooner than boys and that might cause them to be more susceptible to scoliosis.
As it seems to be the theme surrounding this disease, more research is needed to confirm the details and further define the reasoning why girls are more affected than boys.
Unfortunately, there is much more room for research and understanding around scoliosis. The causes, the treatments, the genetics, etc can all be expanded upon in the future to help children and adults who suffer from this life altering disease.
The good news is that screenings are effective in identifying scoliosis early. The sooner it can be detected, the sooner treatments can start that prevent further deterioration of the spine and secondary issues from the spinal curvature.
For now, if you have questions regarding scoliosis for you or a family member, reach out to your medical provider for more support.