What is spondylosis and how does it affect the spine. What are the common symptoms of spondylosis. How is spondylosis diagnosed and treated. What lifestyle changes can help manage spondylosis symptoms.

What is Spondylosis and How Does it Affect the Spine?

Spondylosis is a broad term that refers to degenerative changes in the spine that occur as a natural part of aging. It’s essentially an umbrella term for osteoarthritis and other degenerative conditions affecting the vertebrae, intervertebral discs, and surrounding soft tissues of the spine.

The most common areas affected by spondylosis are:

• Cervical spine (neck)
• Lumbar spine (lower back)
• Less commonly, the thoracic spine (mid-back)

These degenerative changes can lead to a variety of issues, including:

• Bone spurs
• Disc herniation or bulging
• Narrowing of the spinal canal (spinal stenosis)
• Compression of spinal nerves

While spondylosis is a normal part of aging, it can sometimes cause pain and other symptoms that impact quality of life. Understanding this condition is crucial for proper management and treatment.

Common Symptoms and Signs of Spondylosis

The symptoms of spondylosis can vary widely from person to person. Some individuals may experience no symptoms at all, while others may have significant pain and mobility issues. Common symptoms include:

• Neck or back pain
• Stiffness in the affected area
• Reduced range of motion
• Muscle weakness
• Numbness or tingling in the extremities
• Headaches (particularly with cervical spondylosis)

Are certain people more susceptible to developing spondylosis? While age is the primary risk factor, other factors can contribute to its development or severity:

• Genetics
• Occupation (jobs involving repetitive motions or heavy lifting)
• Previous spine injuries
• Obesity
• Smoking
• Sedentary lifestyle

Diagnosing Spondylosis: Tools and Techniques

Proper diagnosis of spondylosis is essential for developing an effective treatment plan. The diagnostic process typically involves:

1. Medical history review
2. Physical examination
3. Imaging studies

During the physical exam, a doctor will assess:

• Range of motion
• Muscle strength
• Reflexes
• Sensory function

Imaging studies commonly used to diagnose spondylosis include:

• X-rays: To visualize bone changes and narrowing of disc spaces
• MRI (Magnetic Resonance Imaging): Provides detailed images of soft tissues, including discs and nerves
• CT (Computed Tomography) scan: Offers detailed images of bone structures

In some cases, additional tests may be necessary, such as:

• Electromyography (EMG): To assess nerve function
• Nerve conduction studies: To evaluate how well nerves are transmitting signals

Treatment Options for Spondylosis: From Conservative to Surgical

The treatment of spondylosis aims to relieve pain, improve function, and prevent further degeneration. Treatment options range from conservative approaches to surgical interventions, depending on the severity of symptoms and the underlying cause.

Conservative Treatments

For many patients, conservative treatments can effectively manage spondylosis symptoms:

• Physical therapy: To improve strength, flexibility, and posture
• Pain medications: Over-the-counter or prescription drugs to manage pain and inflammation
• Hot/cold therapy: To reduce pain and muscle spasms
• Lifestyle modifications: Including weight loss and ergonomic adjustments
• Braces or supports: To provide temporary stability and pain relief

Minimally Invasive Treatments

When conservative measures aren’t sufficient, minimally invasive treatments may be considered:

• Epidural steroid injections: To reduce inflammation around compressed nerves
• Facet joint injections: To alleviate pain from arthritic joints
• Radiofrequency ablation: To deaden nerve endings and reduce pain signals

Surgical Interventions

Surgery is typically reserved for severe cases or when conservative treatments fail. Surgical options may include:

• Decompression procedures: To relieve pressure on nerves
• Spinal fusion: To stabilize the spine and reduce motion between vertebrae
• Disc replacement: To replace a damaged disc with an artificial one

Living with Spondylosis: Lifestyle Changes and Self-Care Strategies

While medical treatments are important, lifestyle changes and self-care strategies play a crucial role in managing spondylosis:

• Regular exercise: Low-impact activities like swimming, walking, or yoga can help maintain flexibility and strengthen supporting muscles
• Proper posture: Maintaining good posture can reduce strain on the spine
• Ergonomic adjustments: Modifying your work environment to support proper spine alignment
• Stress management: Techniques like meditation or deep breathing can help reduce muscle tension
• Healthy diet: A balanced diet rich in anti-inflammatory foods may help reduce pain and inflammation
• Weight management: Maintaining a healthy weight reduces stress on the spine

By incorporating these strategies into daily life, many people with spondylosis can effectively manage their symptoms and maintain a good quality of life.

Preventing Spondylosis: Is it Possible?

While it’s not possible to completely prevent spondylosis, as some degree of spinal degeneration is a normal part of aging, there are steps you can take to minimize its impact and potentially slow its progression:

• Regular exercise: Strengthening core and back muscles can provide better support for the spine
• Maintaining a healthy weight: Excess weight puts additional stress on the spine
• Proper lifting techniques: Always lift with your legs, not your back
• Good posture: Be mindful of your posture during daily activities, especially when sitting for long periods
• Quitting smoking: Smoking can accelerate disc degeneration
• Staying hydrated: Proper hydration is important for maintaining disc health

Can these preventive measures guarantee you won’t develop spondylosis? While there are no guarantees, these steps can certainly help maintain overall spine health and potentially reduce the risk or severity of spondylosis.

The Future of Spondylosis Treatment: Emerging Therapies and Research

As our understanding of spinal degeneration improves, new treatment options for spondylosis are emerging. Some promising areas of research include:

• Regenerative medicine: Stem cell therapy and platelet-rich plasma (PRP) injections are being studied for their potential to repair damaged tissues
• Gene therapy: Researchers are exploring ways to manipulate genes involved in disc degeneration
• Advanced imaging techniques: New imaging methods may allow for earlier detection and more precise treatment
• Minimally invasive surgical techniques: Continued refinement of these procedures may lead to faster recovery times and better outcomes
• Artificial disc technology: Ongoing improvements in artificial disc design may provide better long-term solutions for some patients

While many of these therapies are still in the experimental stages, they offer hope for more effective treatments in the future. As research progresses, it’s likely that we’ll see a more personalized approach to spondylosis treatment, tailored to each individual’s specific needs and genetic profile.

When to Seek Medical Attention for Spondylosis Symptoms

While some degree of back or neck discomfort is common, certain symptoms warrant prompt medical attention. You should consult a healthcare provider if you experience:

• Persistent pain that doesn’t improve with rest or over-the-counter medications
• Pain that radiates down your arms or legs
• Numbness, tingling, or weakness in your extremities
• Difficulty with fine motor skills (like buttoning a shirt)
• Changes in bowel or bladder function
• Unexplained weight loss or fever accompanying back pain

These symptoms could indicate more serious complications of spondylosis, such as nerve compression or spinal cord involvement. Early intervention can often lead to better outcomes and prevent further complications.

What type of doctor should you see for spondylosis? Your primary care physician can often provide initial evaluation and treatment. However, they may refer you to a specialist such as:

• Orthopedic surgeon
• Neurosurgeon
• Rheumatologist
• Pain management specialist
• Physical medicine and rehabilitation physician (physiatrist)

These specialists can provide more targeted treatments and interventions based on your specific condition and symptoms.

Living with spondylosis can be challenging, but with proper management and care, many people are able to maintain an active and fulfilling lifestyle. By understanding the condition, recognizing its symptoms, and working closely with healthcare providers, individuals with spondylosis can develop effective strategies to manage their symptoms and improve their quality of life. As research continues to advance, we can look forward to even more effective treatments and management options in the future.

Spondylosis: What It Actually Means

Spondylosis is a broad term that simply refers to some type of degeneration in the spine.

Spondylosis is an umbrella term used to describe pain from degenerative conditions of the spine. Watch: Spondylosis Video

Most often, the term spondylosis is used to describe osteoarthritis of the spine, but it is also commonly used to describe any manner of spinal degeneration.

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Spondylosis Is a Descriptive Term

As with many other terms to describe spinal problems, spondylosis is more of a descriptive term than it is a clinical diagnosis. Literally it can be translated to mean that one has both pain and spine degeneration, regardless of what is causing the pain or where the degeneration is occurring.

Watch: Video: What Is a Degenerative Disc and the Degenerative Cascade?

For example:

• The patient may have pain from facet joint osteoarthritis, causing pain during times of high activity or after extended inactivity
• There could be spinal stenosis, an abnormal narrowing of the spinal canal, which is creating leg pain when the patient walks
• The pain could be caused by degenerative disc disease, in which a degenerated disc that becomes dehydrated and loses some of its function. The degenerated disc can cause low back pain or neck pain, and possibly leg pain or arm pain.

These examples are only a few of the many possible contributors to a patient’s pain.

See When Back Pain May Be a Medical Emergency

In This Article:

• Spondylosis: What It Actually Means

• Answers to Common Spondylosis Questions

• Spondylosis Video

After arriving at a confirmed clinical diagnosis for the cause of a patient’s pain (rather than just the finding that there is spondylosis, which may or may not be causing the pain), physicians then usually use more specific terms for the diagnosis (such as osteoarthritis, lumbar degenerative disc disease or cervical degenerative disc disease, or lumbar spinal stenosis or cervical spinal stenosis) because those terms more effectively describe what is causing the pain.

Dr. David DeWitt is an orthopedic surgeon practicing at the NeuroSpine Center of Wisconsin, where he specializes in spine surgery. He has more than 15 years of experience evaluating and treating spine diseases and trauma.

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Lumbar and Cervical Spondylosis: Symptoms & Treatments

Spondylosis is a nearly universal condition in those who reach advanced age, but it can also affect younger people. While some people experience no symptoms, others may feel stiffness and/or pain in the neck, shoulders or between the shoulder blades.

• What is spondylosis?
• What are the symptoms?




• Are some people more susceptible?
• How is it diagnosed?
• What type of doctor treats it?
• How is it treated?
• What is the surgery for it?

What is spondylosis?

Spondylosis is another word for osteoarthritis of the spine, a condition that usually develops with age, and is the result of normal “wear and tear” on both the soft structures and bones that make up the spine.

Although any part of the spine may be affected, spondylosis is more frequently seen in the spine’s highest and lowest sections – the cervical (neck) and lumbar (low back) areas, respectively. The condition is less commonly found in the thoracic spine (middle portion), possibly because the rib cage serves to stabilize this area and make it less subject to the effects of wear and tear over time.

Illustration of cross-section of spine, dorsal (back to front) and lateral (side) views, showing its vertebral sections.

What are the symptoms of spondylosis?

People with spondylosis experience may or may not experience pain or, indeed, any symptoms at all. Those who have no symptoms may become aware of the condition only when they are being assessed for another medical issue that calls for imaging of the spine with an X-ray, MRI, or CT scan. When symptoms are present, they vary depending on the area where the condition develops and the structures that are affected, but they can include pain or limited range of motion.

Individuals with spondylosis who are otherwise without pain may experience crepitus, a feeling or sound of crunching in the spine, along with a limited range of motion. This usually is not concerning for nerve or spinal cord damage.

What are the symptoms of cervical spondylosis?

Neck pain and/or stiffness are common symptoms. In cases where spondylotic changes to the spine put pressure on adjacent nerves, patients may experience pain, numbness or tingling that extends down the arm, with or without symptoms in the neck itself. This type of nerve pain, which results from compression or inflammation of the nerve the cervical spine is known as cervical radiculopathy. Severe cases may also cause compression the spinal cord which may manifest as weakness or impaired motor function in the arms or hands, or other symptoms in a condition called cervical myelopathy.

What are the symptoms of lumbar spondylosis?

Low back pain, leg pain and/or other signs of nerve compression are the most common symptoms. Pain or tingling symptoms that extend outward to the hip or down the leg can result from compression or inflammation of nerves, a condition referred to as lumbar radiculopathy. For example, a person may have pain in their knee and think it is injured, but later learn that this pain is caused by spondylosis that is compressing a nerve which extends down to the knee. Irritation of the sciatic nerve in particular, is quite common, and is commonly known as sciatica.

Is spondylosis serious?

Because spondylosis can affect people in many different ways, there is no single answer to this question. Many cases of spondylosis are effectively treated with physical therapy and pain relief measures. However, orthopedists advise seeking more immediate care if the following symptoms, which are associated with pressure on the nerves, are present:

• weakness, including foot drop (difficulty lifting the toes and forefoot off the floor)
• bladder or bowel dysfunction, especially incontinence
• changes in balance that cannot be attributed to other factors
• numbness either in a stripe-like pattern or involving the fingers
• severe pain, especially electrical or shock like pain
• pain in the arms and/or legs that has not responded after attempting other nonsurgical measures like physical therapy, oral pain medications and/or injections

Are some people more likely to develop spondylosis than others?

Spondylosis is likely to affect most people to some degree as they age, as it is the natural result of years of the spine being subject to the forces of gravity. There may be a genetic component (an inherited tendency) to develop the condition, but research has not clearly established this link.

An association between traumatic injury to the spine and the development of spondylosis later in life has been established.

How is spondylosis different from spondylolisthesis?

Although the names sound similar, spondylolisthesis is a condition in which one of the vertebrae (the bones that make up the spine) has moved out of place – usually in a forward direction. While this is a distinct diagnosis, spondylolisthesis may occur as a result of spondylosis, which can cause other structures of the spine move out of their normal position.

Other conditions that may result from spondylosis include:

• spinal stenosis – a narrowing of the spinal canal
• degenerative scoliosis – a sideways curvature of the spine due to osteoarthritis
• degenerative disc disease – wear and tear of the disc space

How is spondylosis diagnosed?

A diagnosis of spondylosis is based primarily on information seen on images of the spine: Changes to the bones are most clearly seen on X-ray, while changes to the soft structures – including the disks that act as cushions between the vertebrae – are more clearly seen on MRI or CT scans.

Abnormalities that may be detected include bone spurs, which are small growths of extra bone, or bulging or herniated discs. Both of these findings can cause narrowing in the spinal canal and put pressure on adjacent nerves. It’s important to note that wear and tear on the spine may show up on imaging tests, without the individual experiencing any pain or discomfort.

To better understand the impact spondylosis may be having on a patient, the orthopedist may order X-rays to look at the skeleton in motion, for example when the spine and neck bend backward or forward.

What type of doctor treats spondylosis?

People should first consult their primary care physician for back and neck pain. For persistent pain or symptoms associated with pressure on the nerves, such as weakness, are best assessed by a physician who specializes in musculoskeletal medicine, such as a physiatrist (a doctor who practices physical and rehabilitative medicine), a pain management doctor or a spine surgeon.

Once a diagnosis has been made, the type of physician who may best treat a patient’s symptoms depends on individual case. For many people, a physiatrist and physical therapist can treat people nonsurgically. In cases where spondylosis-related anatomic changes require removal or release of tissue, a spine surgeon will become involved. In some cases, a physiatrist or spine surgeon may also refer the patient to see a neurologist for additional care. (Find a doctor at HSS who treats spondylosis.)

How is spondylosis treated?

Treatment for spondylosis depends on the specific set of symptoms and findings that a patient is found to have and the area of the spine that is affected. Initial measures almost always include physical therapy to strengthen the muscles that support the spine and, in some cases, epidural injections to reduce inflammation and pain. Short courses of oral pain medication, like anti-inflammatories, may also be prescribed.

Although non-operative treatment won’t change the structural effects of spondylosis – the wear and tear on tissues and the pressure on the nerves – it can provide relief while the nerve adapts to these changes in the spine anatomy. In many cases, this allows the symptoms to decrease without surgery.

What is the surgery for spondylosis?

If a person continues to have pain and debility from spondylosis after conservative measures are tried, surgical treatment may be recommended. The specific procedure needed depends on the abnormalities present in the spine, but it will generally involve addressing the area of the spine that is pressing on a nerve.

Some examples of minimally invasive surgical treatment for spondylosis include:

• removal of a bone spur in cervical spondylosis
• placement of spacers to recreate space lost by disc wear, allowing nerves to be free of compression
• removal of soft tissues that can become thickened in spondylosis that press on nerves

In some cases, a patient with spondylosis will require more extensive surgery to remove more a portion of the spine that is causing pain, and a fusion of the vertebrae, a surgery that stabilizes the bone.  Anterior cervical discectomy with fusion (ACDF surgery) is one such procedure in the neck. For low back pain or other problems associated with lumbar spondylosis, a lumbar laminectomy, with or without fusion, or various other types of lumbar fusion surgery may be appropriate.

What is the recovery time for spondylosis surgery?

Recovery time varies depending on the nature of the surgery, with minimally invasive procedures permitting a more rapid return to daily activities. Many patients will complete a course of physical therapy beginning at six weeks after their operation. Keeping the supporting muscles flexible and strong and maintaining a healthy weight are the best way to prevent further problems in the spine.

Patients are also advised to assess and adjust ergonomic conditions that may have exacerbated their pain, for example raising a computer monitor to eye level to eliminate the tendency to hunch forward while doing office work.

Are there any dietary supplements that can help treat or prevent spondylosis?

There is no evidence at this time that any particular diet or supplement will help with spondylosis. It’s always a good idea to follow a healthy diet and to use supplements with caution, as these products are not regulated by the US Food and Drug Administration (FDA).

Updated: 4/17/2023

Authors

Sariah Khormaee, MD, PhD

Assistant Attending Orthopedic Surgeon, Hospital for Special Surgery
Assistant Professor of Orthopedic Surgery, Weill Cornell Medical College

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Epiphyseal dysplasias. What is epiphyseal dysplasia?

IMPORTANT
The information in this section should not be used for self-diagnosis or self-treatment. In case of pain or other exacerbation of the disease, only the attending physician should prescribe diagnostic tests. For diagnosis and proper treatment, you should contact your doctor.

Epiphyseal dysplasias are a large group of genetically heterogeneous skeletal dysplasias, which are united by a violation of the formation of the enchondral spongy bone in the area of ​​the metaphyses and epiphyses of the bones, as well as (in some cases) the vertebral bodies. Symptoms of this condition vary depending on the type of disease, most often there is a curvature of the legs, anomalies of the joints of the limbs, and a decrease in growth. Diagnosis of epiphyseal dysplasia is carried out on the basis of X-ray data, a study of the patient’s hereditary history, and molecular genetic analyzes. There is no specific therapy; palliative and symptomatic treatment is possible, including orthopedic measures and surgical correction.

ICD-10

Q77.7 Spondyloepiphyseal dysplasia

• Causes
• Classification
• Symptoms of epiphyseal dysplasia
• Diagnostics
• Treatment of epiphyseal dysplasia
• Prognosis and prevention
• Prices for treatment

General

Epiphyseal dysplasia is one of the most common forms of congenital skeletal lesion, having a genetic nature with a diverse pattern of inheritance and clinical manifestations. Many variants of this pathology have been known for a long time, however, as a separate nosological unit in 1935 was described by the German doctor T. Fairbank, who was able to correctly determine the cause of the disease – a violation of the development of the epiphyses of the bones.

The incidence of a condition with an autosomal dominant pattern of inheritance is about 1:10,000, the frequency of a rare autosomal recessive form of the disease is unknown. Epiphyseal dysplasias of most types are equally likely to affect both men and women, but some varieties are slightly more common in males (the distribution is approximately 3:1).

Epiphyseal dysplasia

Reasons

Epiphyseal dysplasias are characterized by pronounced genetic heterogeneity; therefore, there are several different variants of this disease in modern orthopedics. In addition, there are certain phenotypic differences in the course of pathology and its prognosis.

According to geneticists, more than half of all clinical cases of epiphyseal dysplasia are based on currently unknown molecular genetic disorders, so research on this disease continues. Most forms of epiphyseal dysplasia are characterized by an autosomal dominant pattern of inheritance, however, penetrance and expressivity fluctuate over a very wide range, which affects the clinical course of the pathology.

There are a number of other types of epiphyseal dysplasia, and key genes have been identified for some. But they are much less common – there are forms of these diseases described in only a few families. In addition to the actual etiology, various forms of epiphyseal dysplasia may differ in clinical course – different age of onset of the disease, the presence or absence of other disorders (hearing loss, deafness, myopia, skin abnormalities).

Classification

In total, more than 10 different forms of this pathology are currently known, the most common are types 1, 2, 3 and 4:

• Epiphyseal dysplasia type 1 (Fairbank’s disease) is an autosomal dominant disease and the most common type of this skeletal malformation. It is caused by mutations in the COMP gene, which is located on the 19th chromosome and encodes the oligomeric cartilage matrix protein, one of the proteins responsible for the metabolism and development of bone and cartilage tissue. In addition to type 1 epiphyseal dysplasia, mutations in this gene can lead to another well-known musculoskeletal disorder, pseudoachondroplasia. One of the reasons for the wide distribution of this pathology is the autosomal dominant nature of inheritance.
• Type 2 epiphyseal dysplasia is caused by a mutation in the COL9A2 gene, which encodes the alpha-2 chain of type 9 collagen, which is the most abundant in bone and cartilage. As a rule, missense mutations are noted in this gene, leading to a change in the structure of the encoded protein, which causes pathological changes.
• Epiphyseal dysplasia type 3 is largely similar in its etiology to the previous variant of the disease, as it is caused by a mutation in the COL9 geneA3, located on the 20th chromosome. It encodes another type 9 collagen chain, therefore, disturbances in its structure lead to the development of skeletal pathologies and complicate the formation of endochondral bones.
• Epiphyseal dysplasia type 4 is caused by mutations in the SLC26A2 gene located on the 5th chromosome. It is an autosomal recessive disease. The expression product of this gene is considered to be a transmembrane protein of chondroblasts and osteoblasts, which is responsible for the transport of sulfate ions, which are essential for the formation of cartilage and bone tissue proteoglycans. Structural features of SLC26A2 lead to a relatively high frequency of development of defects in it; therefore, mutations in this gene are the cause of many hereditary diseases of the musculoskeletal system. In addition to multiple epiphyseal dysplasia, SLC26A2 defects are the cause of some types of achondrogenesis, atelosteogenesis, and diastophic dysplasia.

The nature of skeletal disorders in different forms is very similar and comes down to anomalies in the development of the joints, especially those that experience the greatest load – the hip, knee, ankle. The role of physical activity in the development of skeletal anomalies in epiphyseal dysplasia is quite large, therefore, various orthopedic methods of treatment can significantly improve the condition of patients.

Symptoms of epiphyseal dysplasia

Due to the pronounced heterogeneity of epiphyseal dysplasia, the onset of symptoms of this disease can begin at different ages, depending on the type of pathology. Some forms lead to skeletal anomalies that are already registered at the birth of the patient, a significant part of the varieties are characterized by the development of defects at the age of 2-3 years, some rare types of epiphyseal dysplasia are diagnosed in adolescence or even adulthood. The reason why this disorder usually begins in early childhood is due to the increased stress placed on bones and joints after walking and weight gain.

Many forms of epiphyseal dysplasia are characterized by the development of X- or O-shaped curvature of the legs, due to deformation of the epiphyses of the femur and tibia. In some cases, short stature is noted, caused both by a reduction in the length of the limbs (due to the shortening of long tubular bones) and a decrease in the body due to spinal deformity.

Almost all types of epiphyseal dysplasia, to a greater or lesser extent, lead to hypoplasia of the vertebral bodies and the delayed formation of ossification points in them. This can cause a decrease in the length of the spinal column and its various curvatures (scoliosis, lordosis) – especially in the absence of orthopedic correction methods. A common symptom of many types of epiphyseal dysplasia is also increased mobility of a number of joints.

Separate forms of epiphyseal dysplasia, in addition to skeletal disorders, are accompanied by lesions of internal organs, eyes, auditory and endocrine systems. For example, the Walcott-Ralshson type is manifested by the early development of insulin-dependent diabetes mellitus and myopia, some other forms are combined with deafness. Varieties of epiphyseal dysplasia are described, which are also characterized by osteoporosis and skin atrophy.

Intellectual development is not affected in most types of the disease, but in some forms, mental retardation of varying severity can be observed. Most often, epiphyseal dysplasia does not affect the life expectancy of patients, but concomitant disorders characteristic of some forms can lead to severe complications.

Diagnostics

The leading role in determining any type of epiphyseal dysplasia is played by x-ray studies, general examination of patients and molecular genetic analyzes. In some cases, the study of hereditary history is additionally used – its results may vary depending on the autosomal recessive or dominant nature of the inheritance of the pathology.

• Radiography. On radiographs, depending on the form of epiphyseal dysplasia and the age of patients, a slowdown in the processes of ossification of the epiphyses, their deformation, and shortening of long tubular bones can be determined. Older patients often show enlargement and deformity of the knee and ankle joints. Many forms of epiphyseal dysplasia also lead to deformities of the vertebral bodies, their bone age often lags behind the actual one.
• Molecular genetic diagnostics. Possible in relation to only some of the most common forms of epiphyseal dysplasia with a reliably known etiology. As a rule, most laboratories and clinics provide this option for types of pathology caused by mutations in the COMP, COL9A2, COL9A3 and SLC26A2 genes. The most commonly used method is direct automatic sequencing of the above genes in order to detect mutations.

To diagnose forms of epiphyseal dysplasia that are combined with other malformations (for example, deafness, eye and endocrine disorders), other research methods may be required – examination by a specialist of the appropriate profile, blood and urine tests.

Treatment of epiphyseal dysplasia

At the moment, there is no specific treatment for epiphyseal dysplasia; a variety of methods of supportive and symptomatic therapy are used. It is especially important to prescribe orthopedic correction in a timely manner – wearing bandages and corsets to reduce the load on the spine and leg joints. This avoids severe deformities and thus improves the quality of life of patients with epiphyseal dysplasia. Some already developed curvature and defects can be corrected by surgical intervention. Symptomatic treatment is also indicated for disorders that accompany some forms of epiphyseal dysplasia – diabetes mellitus, myopia, osteoporosis.

Prognosis and prevention

As a rule, the prognosis of most forms of epiphyseal dysplasia in terms of patient survival is favorable – limb deformities and short stature do not threaten life and do not shorten its duration. Only some severe forms of curvature of the spine can lead to violations of the internal organs, which aggravates the course of the disease. With the timely detection of epiphyseal dysplasia and the beginning of orthopedic treatment, disability of patients is relatively rare, many retain mobility and ability to work (albeit somewhat limited).