Degenerative disc disease (DDD) is very common and although in some people there may be a genetic component to it there are many other causes apart from genetics. These include factors such as age, lifestyle, and environment that all play significant roles. In this article we look at what degenerative disc disease is, whether you may inherit a tendency to have it, and what is involved if you are considering having genetic testing.
Although not strictly a disease as such, degenerative disc disease (DDD) is a common condition linked to the gradual deterioration of the intervertebral discs in the spine. According to studies, by the age of 30, about 30% of people may show signs of disc degeneration. By the age of 60, this number may increase to around 90%.
Our intervertebral discs are soft, gel-like structures located between the vertebrae (backbones) of our spine, and act as shock absorbers, providing cushioning from impact - such as when we jump up and down or run - and allowing for flexibility in the spine. Several factors can cause our discs to degenerate, including:
DDD can cause a number of separate problems including:
As the discs in our back degenerate, small cracks or tears may develop in the outer layer (annulus fibrosus). This can lead to the protrusion or herniation of the inner gel-like material (nucleus pulposus) through these tears. Disc herniation can cause irritation of nearby nerves, leading to pain and other symptoms.
As a response to DDD, bony growths or spurs may form along the edges of the vertebrae. These bone spurs can then cause stiffness and can potentially press on nerves in the back.
Degenerative changes in the discs and surrounding structures can lead to spinal inflammation, causing pain and discomfort in that area.
These vary widely from person to person, and some people may not have any symptoms at all. If they do occur, the common symptoms associated with degenerative disc disease may include:
Persistent or intermittent pain, typically in the lower back or neck, is a common symptom. This type of pain may radiate to the buttocks, thighs, or shoulders, depending on where the affected discs are located. It may also be worsened by certain movements, such as bending, twisting, or lifting and any activity that puts increased pressure on the affected discs may lead to increased discomfort. The pain often improves with rest, as taking pressure off the spine can help to reduce some of the discomfort associated with DDD.
If a degenerating disc presses on a nerve, you may experience numbness, tingling, or a "pins and needles" type of sensation in that area. If the bottom of the back is affected, symptoms may extend into the legs whereas if the neck discs are affected, there may be symptoms in the arms.
Muscular weakness can sometimes occur if pressure on a nerve (compression) is hard enough, and this leads to impaired nerve function. This weakness may affect muscles in the arms or legs, depending on where the affected discs are situated.
Yes it can. In people with a strong family history of degenerative disc disease, there may be a higher likelihood of developing the condition and some estimates from studies suggest this risk could be as high as 75% in twins. However, it's important to say that genetics alone do not determine the occurrence of DDD, and other things like smoking, obesity, poor posture, and physical activity levels can also influence its development and in most people these are what determine whether it develops.
We now know there are several genetic factors that can contribute to the likelihood of disc problems occurring. These include:
Genetic variations. Some people may inherit genetic variations from their parents that affect the structure and composition of their intervertebral discs, making them more likely to degenerate.
Collagen genes. Collagen is a key component of the annulus fibrosus and helps give strength and flexibility to our discs. Genetic variations in collagen genes may affect this and so contribute to disc problems.
Matrix metalloproteinase genes. Matrix metalloproteinases are enzymes involved in the breakdown of certain substances, including those in intervertebral discs. Genetic factors influencing the activity of these enzymes may worsen disc degeneration, particularly with one known as MMP3 (stromelysin 1).
Aggrecan genes. Aggrecan is a substance that helps to keep intervertebral discs well hydrated. Genetic variations in the aggrecan gene may affect the disc's ability to retain water and so increase the chances of degeneration occurring.
Genetic test counselling - also known as genetic counselling - is a process where individuals or families are provided with information and support about genetic conditions, their risk factors, and the implications of genetic testing should they choose to proceed with it. It is a personalised process that aims to empower individuals and families to make informed decisions about their health and well-being based on genetic information, and genetic counsellors often work closely with other healthcare professionals to ensure comprehensive care.
The usual process followed is:
Assessment. The genetic counsellor assesses your personal and family medical history to understand the context and potential risks.
Education. The counsellor educates you about the specific genetic condition being considered for testing, including its inheritance patterns, associated risks, and available testing options.
Informed consent: The counsellor discusses all the benefits and limitations of genetic testing with you, as well as any potential emotional, social, and medical implications. Informed consent is always obtained before any testing goes ahead.
Genetic testing. If you decide to proceed with genetic testing, a sample - such as blood, saliva, or tissue - is collected for analysis. This is easy, quick and painless. This genetic material (DNA) is then analysed in a laboratory to identify any specific genetic variations or mutations associated with the condition in question.
Post-test counselling. When the results are available, your counsellor informs you of them. This may involve discussing normal results, carriership status, or the presence of a genetic condition. They interpret the genetic test results in the context of your medical and family history, and provide emotional and psychological support to help people cope with the results, especially if they are unexpected or have significant health implications.
Risk assessment and management. The counsellor helps you to understand the implications of the genetic test results for your health and the potential risk for other family members. This may also involve discussions about preventive measures, surveillance, or medical management options available to help reduce the impact of a genetic condition.
Education. Your counsellor helps to provide you with information on resources, support groups, and educational materials related to your genetic condition and will arrange follow up appointments to monitor you, answer any additional questions you may have, and provide ongoing support.
These usually involve a combination of conservative measures to manage your symptoms and help improve function although in more severe cases, surgery may be considered. The common treatments for degenerative disc disease are:
Pain relief. Over-the-counter pain relievers such as paracetamol or nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen can help to reduce the pain and inflammation linked to DDD. You can purchase these from our shop.
Physiotherapy. Physiotherapists can design exercise programmes for you to strengthen the core muscles, improve flexibility, and promote proper posture. This can help relieve pressure on the spine and so reduce symptoms.
Heat and cold therapy. Putting heat or cold on the affected area may help to reduce inflammation and pain. Heat can improve blood flow, while cold can numb the area and reduce swelling. Never apply ice directly onto the skin as it may damage it - always wrap it in a towel and do not use it for more than 10 minutes at a time.
Lifestyle modification. Maintaining a healthy weight, avoiding prolonged sitting or standing, and having a healthy posture can help manage symptoms and prevent further disc degeneration. Adjusting your daily activities to minimise any strain on the spine (such as by using ergonomic furniture) can also be beneficial.
If more intensive treatment is needed, these can include steroid injections and surgery. Emerging treatments include stem cell therapy that looks to use stem cells to promote disc regeneration and slow the progression of degenerative changes, and biologic injections where substances such as platelet-rich plasma (PRP) or growth factors are being investigated for their potential to promote healing and reduce inflammation.
Remember that the choice of any treatment used depends on the severity of your symptoms, the extent of the disc degeneration, and your overall health. Your healthcare professional (typically an orthopaedic or spine surgeon) can assess your specific situation and recommend the most appropriate course of action for you. In this way, your unique needs and preferences can be addressed. If you have any concerns that you have degenerative disc disease affecting your life, discuss this initially with your doctor to see if further investigations may be needed.
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