Genetic Testing Predicts the
Risk of and Progression of Scoliosis
FACTUALLY ACCURATE & VERIFIED BY
Dr. Clayton J. Stitzel
LAST UPDATED ON
November 9, 2021
Genetic Identification & Interpretation of Variants Related to Idiopathic Scoliosis
Most orthopedic scoliosis specialists agree idiopathic scoliosis is more than only a spine condition. It extends beyond the spinal curvature, which is the primary symptom of the condition. Centuries of family history show a genetic predisposition to idiopathic scoliosis. It is not related to a single gene. Adolescent idiopathic scoliosis is the result of specific patterns of genetic defects.
More recent and advanced understanding of genetic predispositions reveals genetic insights. These are far more complex than mere dominant and recessive genetic heritage. In fact, it is now clear there is no “scoliosis gene” per se. In fact, the scoliosis condition seems to be a result of many genetic variants, or defects. These impact the genetic performance (increased or decreased). These alterations to the metabolic pathways create the neuro-hormonal problems that cause idiopathic scoliosis.
Advancements in genetic identification/interpretation, clinical testing, and non-invasive metabolic interventions may allow opportunities for the prevention of scoliosis.
“The average person is aware of genetics and familiar with the concept of DNA, but the idea of genetic testing is often limited or misunderstood.”
– Clayton J. Stitzel DC
Table of Contents
Genetic testing services like 23andMe and Ancestry provide accurate and affordable genetic testing. But, no scoliosis genetic interpretation. These testing services are actually testing genetic SNPs (Single Nucleotide Polymorphisms). These are looking for known variants, or typos, which affect the gene’s performance. These tests are accurate in detecting the presence of these SNPs. But, they do not tell you how severe the defects are, or to which metabolic processes they involve. Receive free recommendations on how genetic testing is making early stage scoliosis intervention possible sent to your email.
Some online genetic interpretation services like LiveWello or Genetic Genie, have popped up to fill the void. Yet, they do not solve the complex issue of determining metabolic severity of the detected genetic SNP variant.
Very significant privacy concerns exist as big pharmaceutical companies are forming business relationships with many of these personal genetic testing companies. ScoliSMART provides a privacy guarantee for all genetic data collected by our testing.
Targeted clinical testing is often based on genetic interpretation. This is necessary for confirmation and to determine metabolic severity of genetic SNP defects.
Often, genetic testing that identifies SNP variants warrants extra clinical testing. Genetic testing tells us where to look for problems. It provides little information on how severe the problem is and how it is affecting the person. It is not uncommon for a person’s body to create compensation mechanisms or alternative metabolic pathways. This can only be assessed with very targeted urine or blood testing. There are hundreds of clinical tests available. Hormone, bone, and neurotransmitter production are the most critical for determining the impact of genetic SNP variations in scoliosis patients.
Hormone Testing for Scoliosis
Scoliosis development and curve progression occurs during periods of rapid growth in adolescent patients. Particularly with the introduction of estrogen in female patients. Idiopathic scoliosis affects adolescent females at a rate 7 times that of males. Many have speculated this may be due to a mistiming of spinal cord length related to the increase in spinal elongation due to rapid growth.
Adult scoliosis progression correlates with the absence of estrogen as patients enter menopause. Thus, we see significant curve progression in female patients when estrogen starts and ends throughout the patient’s life cycle.
It seems unlikely anything is dysfunctional with the estrogen hormone itself. Female adolescent scoliosis patients generally do not display any other symptoms of estrogen dysfunction. It may be more related to the progesterone to estrogen balance. Clinical testing of hormones for scoliosis determines the balance of estrogen in relation to other sex hormones. This could provide critical insight to the cause and progression of teenage scoliosis. Adult patients with scoliosis may also use hormone testing for scoliosis. Preventing post-menopause curve progression and improving other menopause-related symptoms.
The ScoliSMART hormone testing for scoliosis is a simple home-collection saliva test mailed straight to the lab for analysis.
Bone Health Testing for Scoliosis
Bone structure is a big topic in the idiopathic scoliosis conversation, and with good reason. X-ray of the spinal bones (vertebrae) is the primary tool for determination and analysis of the scoliosis condition. Bone health receives a large amount of focus and attention in the efforts to treat the condition. Skeletal bone, as all biological tissue, has a normal metabolic cycle of building and breaking down at an equal rate. Skeletal bone in patients with idiopathic scoliosis may grow at 2 to 3 times the normal rate. But, newer data suggests more concern should focus on the density of the bone in patients’ idiopathic scoliosis. Not only the rate of growth. Bone density is a function of the metabolic rate (rate of bone building vs. bone breaking down). So low bone density is a result of bone breakdown outpacing bone building.
The skeletal bone itself is a bone matrix and the minerals that attach to the matrix, which provide bone density. Think of the minerals (calcium, magnesium, phosphorus, etc.) as clothing and the bone matrix as the clothes’ hangers. Lack of hangers (bone matrix) leads to all the clothes (minerals) piled in a heap in the middle of the floor. So, the evaluation of bone health (rate of bone breakdown vs. bone-building) is dependent on maintaining the bone matrix. As well as the appropriate mineral compounds.
The benefits of improved bone health and increased bone density for adult patients are obvious. Two words: osteoporosis prevention. But it may also play a critical role in halting further curve progression and stabilizing the lateral listhesis (sideways slipping of the bones in the lower back). This is often seen in adult scoliosis. The bone health testing offered by ScoliSMART is a urine sample submitted at a local collection center. They will send it to the lab. It determines the rate of bone building vs breaking down in patients with idiopathic scoliosis.
Neurotransmitter Testing for Scoliosis
Neurotransmitters are the chemical signals that allow your brain and body to communicate with each other. The human body makes many different neurotransmitters. ScoliSMART has identified 4 specific neurotransmitters (serotonin, glutamate, norepinephrine, and histamine) and 3 patterns of neurotransmitter imbalances that relate to idiopathic scoliosis. These patterns of neurotransmitter imbalances may be the result of poor diet, genetics, or inflammation causing absorption problems.
Clinical data suggests improved neurotransmitter levels have a significant impact on patient outcomes. Both in scoliosis rehabilitation programs, and it could also lower the risk of further curve progression during growth.
Monitoring neurotransmitter imbalances could be a quick, cheap, non-invasive way of predicting curve progression. Besides a positive effect on the scoliosis condition, adolescent and adult patients alike report improvements in:
- energy levels
- and quality of sleep when neurotransmitter levels are balanced.
ScoliSMART offers scoliosis-specific neurotransmitter testing with a home-collection urine test mailed straight to the lab.
Surgical Hardware Sensitivity Testing
Spinal fusion surgery for scoliosis involves the use of metal hardware manufactured from different metallic compounds. Unfortunately, many patients are sensitive to these surgical metals. They can develop unrelenting allergic responses to them after scoliosis surgery. Exposure to metal surgical hardware can lead to health problems in sensitive patients. This test can identify elevated levels of these surgical metals circulating through the bloodstream.
These are a risk factor for developing allergic reactions. This test looks at the circulating blood levels of the six metals that are associated with metal surgical implants. This metal debris may be associated with excessive physical wear or corrosion of the metal alloys.
Children and adults with metal hypersensitivity may develop symptoms such as:
- chronic fatigue,
- joint and muscle pain,
- skin rashes,
- and mood changes.
Metal allergy is actually well-recognized in instances where the surgical hardware failed. So, the need for this testing post-surgical patients is recognized by both surgical hardware manufacturers as well as the surgeons using them. The occurrence of metal allergy in patients with hardware implanted is much higher than in the general population. And even higher in cases where the surgical hardware broke or failed.
For those patients who have had scoliosis fusion surgery, or any surgery involving metal implants, the American Academy of Orthopaedic Surgeons recommends assessment of circulating metal levels for patients with certain surgical implants every year if they’re asymptomatic, and every 4-6 months if they’re having pain or any of the above symptoms.
Treating Scoliosis with Nutrient Therapies
Genetic testing can tell us where to look for the most likely underlying causes of idiopathic scoliosis and its progression. Targeted clinical testing can tell us how severe those underlying issues are affecting the patient. Nutrient therapies are an opportunity to use this very specific information to alter the natural course of the idiopathic scoliosis condition.
Non-drug nutrient therapies support, re-balance, or replace neurotransmitters, hormones, or other activator molecules in scoliosis. Often, patients are genetically unable to produce normal amounts. The nutrient therapies often consist of precursor molecules in the form of:
- amino acids,
- enzyme activators,
- or metabolic end products
Most scoliosis patients cannot produce these on their own.
In certain cases, lifestyle modifications may be recommended to aid and assist the nutrient therapies, such as limiting dietary gluten or dairy products.
Genetic guided clinical testing and non-drug nutrient therapies are a new and innovative approach for adolescent and adult patients. Both should consider including it as part of their whole treatment strategy. This new approach, designed to target the underlying metabolic issues associated with idiopathic scoliosis, is the first attempt to reach the whole scoliosis condition and not only the spinal curve.
ScoliSMART Clinics is committed to treating the WHOLE scoliosis condition, not only the curve. Genetic & clinical testing with targeted nutrient therapies, expert in-office treatment programs, and the world’s only ScoliSMART Activity Suit provides patients of all ages with the most comprehensive, most effective, and least invasive treatment options available worldwide.
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