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DNA Testing: Uncovering the Cause of Scoliosis


Dr. Aatif Siddiqui

Table of Contents

An In-Depth Look into the Cause of Scoliosis

A bent spine is the main sign, not the cause of scoliosis. Doctors search for reasons beyond the curve. Studies suggest genetic factors contribute to idiopathic scoliosis, affecting protein and hormone production. During rapid growth, patients can’t adjust genetically, causing spinal misalignment.

Most cases are called idiopathic scoliosis – which means of unknown cause. There are other forms and development of the condition, as well.

  • Muscular Dystrophy
  • Cerebral Palsy/ Neuromuscular scoliosis
  • Congenital Scoliosis
  • Degenerative Scoliosis
  • Tethered spinal cord Medical advice may be necessary to help you determine what type of scoliosis you or your child may have.

The diagnosis of adolescent idiopathic scoliosis, also known as AIS, often causes fear, stress, and anxiety because of the uncertainty surrounding:

  • the cause
  • the risk of getting worse
  • determining the best course of treatment
  • having to contemplate the possibility of spinal fusion surgery.

The word “idiopathic scoliosis” suggests we don’t know the cause of scoliosis. AIS results from genetic variants causing miscommunications between the brain and body during growth spurts. These lead to the spine bones growing too quickly, forming a spinal curve, the main symptom.

sid new to scoliosis

The brain controls spine alignment. It’s not voluntary but automatic due to gravity. Our “postural memory” in the brain helps with this. Genetic factors and other influences can create a faulty postural memory, causing scoliosis symptoms. It’s not weak muscles but incorrect messages to spinal muscles.

More Factors Lead to Curve Progression in Idiopathic Scoliosis

Muscle weakness does not lead to progression. Curve progression appears to be dependent on genes and environmental risk factors. These range from nutritional deficiencies to specific physical activities. These can be further increase susceptibility by:

  • “leaky gut syndrome”
  • chronic poor diet
  • food sensitivities to lactose or gluten

Your kid might inherit a strong curve in the spine. It could be severe or slight. A recent study showed that having many genetic variants increases risk of severe curvature by 33%. The condition makes the spine twist and bend, like a rubber band twisting and kinking. To prevent spinal deformity, we must stop this twisting force as it feeds itself. All treatment efforts should focus on:

  • reducing the effects of the genetic mutations
  • resetting the posture memory (rebalancing neurotransmitter levels) retraining the postural memory to learn how to untwist the spine with a “reflexive response” scoliosis exercise program.

What is the Cause of Scoliosis?

While the exact cause of scoliosis is often unknown and referred to as idiopathic scoliosis, there are several factors that may contribute to its development. These factors include genetic predisposition, as the condition tends to run in families; abnormalities in the bones or muscles of the spine; neuromuscular conditions such as cerebral palsy or muscular dystrophy; and certain birth defects affecting the development of the spine. In some cases, the cause of scoliosis is related to injuries, infections, or tumors affecting the spine. Early detection and treatment are crucial in managing the curvature and preventing its progression. Treatment options may include bracing, physical therapy in the form of Scoliosis Boot Camp, or in severe cases, surgery to correct the spinal curvature with the use of a back brace. However, the cause of scoliosis is still unknown and has been a subject of study in the field of natural history and genetics for decades.

What is the Cause of Scoliosis in Children?

The cause of scoliosis is related to hormones and genes. Even twins can have different risk factors. It results in the spine bending and is more than just a curved spine issue. Different genetic patterns work together to cause specific lack of nutrients. This causes imbalances in the body’s chemicals like neurotransmitters, enzymes, and hormones. When the body can’t balance these chemicals during growth spurts, it shows as a curved spine due to DNA deficiencies.

Children should take a genetic test at home with saliva to check genetic risk. The test can predict a curved spine. Certain neurotransmitter patterns are linked to more severe curves. Kids with higher genetic risk should also do a urine test at home for neurotransmitter problems. It helps identify those who may need surgery due to worsening curves later.

How Do You Get or Develop Scoliosis?

“Scoliosis” is a broad term covering many different types of the condition (a spinal curve) that can affect thoracic spine or lumbar spine depending on the case. How one gets or develops scoliosis depends on the given type of curvature:

  • Congenital, muscular dystrophy, spinal cord pathology, are all secondary to another condition.
  • But, over 80% of cases are “idiopathic” (i.e. of unknown cause). This leads to questions about environmental, genetic, and hereditary causes.
  • Additionally, adult-onset cases are often referred to as degenerative curvature.

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Is Scoliosis do to Environmental Factors or Is Scoliosis Hereditary?

When studying the development of a spinal curvature, hereditary factors can provide a lot of insight. But they also raise as many questions as they answer. 

For example, if the condition is hereditary, why does it also crop up in children with no family history of the condition? Another oddity researchers have noted. The condition seems to have variable effects within each generation. A mother with a mild curve might have a daughter with a severe one, or it might skip a generation. 

But identifying what those factors are is tricky. Studies have ruled out the theory that the curves are caused by specific behaviors such as slouching or carrying a heavy backpack. They have also found no link between curvature of the spine and living in an industrialized area. 

Fact: Various factors contribute to the condition. It is not a fixed deformity, but a dynamic process that appears to spring from a combination of different factors. The more we study it, the better equipped we become able to treat the condition.

Mark Discuss genetic testing for scoliosis

Are There Genetic Scoliosis Causes?

Strong evidence suggests that the problem can be inherited. About 1/3 of people with spine curvature have a family history of the condition. Close family members have an 11% chance of developing it through inheritance. Daughters (29%) are more at risk than sons (9%) if a parent has it. Certain genetic variants linked to estrogen might play a role, affecting estrogen functions. This imbalance could cause issues during growth spurts before menstruation starts. ScoliSMART doctors believe genes may influence curve shape and progression risk in curve development. Studies confirm that the condition tends to run in families, with nearly a third of patients with adolescent idiopathic scoliosis having a family history of the condition. This suggests that there may be genetic causes that contribute to the development of the condition.

The numbers support the theory the condition is hereditary, or passed down from family members. But does that mean it is genetic? 

To answer that question, it is important to understand the difference between genetic and hereditary. Most people use them synonymously, and sometimes they are, but there are subtle differences. A trait can be hereditary without being genetic. Cultural characteristics, for example, are passed down through families but are not connected to genes, and genetic traits are not always hereditary. Consider cancer, which arises from mutant genes, but in most cases are not inherited from one’s parents.

Is Scoliosis Genetic or Hereditary?

Genetic Testing

By examining the inheritance patterns, scientists have concluded the condition is both genetic and hereditary. Only recently the doctors at ScoliSMART have discovered the 28 DNA groups associated with the condition. This information could be vital to predicting:

  • the onset of a spine curve 
  • the likelihood of severe progression
  • and even possibly prevent the condition with targeted nutrient therapies 

“Researchers suspect that many genes are involved in adolescent idiopathic scoliosis,” says the National Institute of Health. “Some of these genes likely contribute to causing the disorder. Others play a role in determining the severity of spinal curvature and whether the curve is stable or progressive. Many genes have been studied, few clear and consistent genetic associations with the condition have been identified at the onset of adolescence.”

Are You Born with Scoliosis?

In about 20 percent of cases, the cause is obvious. Birth defects (congenital), bone damage, and neuromuscular scoliosis disorders like spina bifida, cerebral palsy, or a spinal cord injury can all cause spinal curves to form, but they are a small minority. More than 8 in 10 cases are idiopathic scoliosis, which means they have no known cause. However, it is important to note that individuals with underlying neuromuscular conditions such as spina bifida are at a higher risk for developing a curved spine.

Through decades of research, scientists have discovered many facts about adolescent idiopathic curvatures. But, those findings haven’t explained why one child’s curve progresses rapidly while another child’s curve requires no medical attention at all. 

“Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors,” says the National Institute of Health. Studies suggest that the abnormal spinal curvature may be related:

  • to hormonal problems,
  • abnormal bone or muscle growth,
  • nervous system abnormalities,
  • or other factors that have not been identified.

Reflexive Retraining Resets Your Postural Memory!

The good news is that specialized “scoliosis exercises” can halt curve progression. (This is true whether the patient is young or older). Coupled with nutritional supplements to correct imbalances, this is the closest you can get to a cure. ScoliSMART reflexive training uses balance, weights, exercises, and patented equipment to reset your postural memory so your brain will learn how to hold your spine straighter (automatically) over time. Our program uses spine and torso exercises to retrain the brain and increase core strength/stability. The program reduces the rigidity of the patient’s spine and reduces the curvature of the spine. All without surgery. 

Research showing postural memory imbalance’s effect on spinal curve development and progression is recent. But not brand new. Yet, treating the cause of scoliosis instead of its crooked spine symptom is still a somewhat new concept. For many doctors and patients alike. Unfortunately, change and progress are often hard and slow to catch on.

sid our approach is better than bracing

Non-Invasive Treatment Options for Adolescent Scoliosis

Doctors have used childhood scoliosis braces for over 450 years and surgical intervention for over 150 years. Non-invasive treatments, such as bracing, may be offered to slow or prevent the worsening of the condition, but they do not stop curve progression long-term. However, these treatments can cause back pain and serious complications. Bracing can make the spine straighter while your child wears it, but it weakens the muscles so much that curves quickly worsen when the treatment ends. Non-invasive treatment options, such as bracing, are recommended for adolescents with severe scoliosis or a curve that has worsened to more than 50 degrees. Surgical intervention, also known as surgery, is offered when non-invasive treatments are no longer effective. People who undergo surgical intervention for severe scoliosis often experience significant disability within two decades.

You have treatment options other than bracing and spinal fusion procedure. Whether your child’s diagnosing scoliosis event occurred or you have already tried outdated treatments, there are non-invasive options available for treating the whole condition, including the spinal curvature. ScoliSMART doctors understand the cause of curve progression and we know how to help you treat scoliosis, the whole condition, as well as, the child’s spine curve by devising a comprehensive treatment plan.

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How Old is the Patient?

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