Syringomyelia is a rare neurological disorder characterized by the development of a fluid-filled cavity or cyst, known as a syrinx, within the spinal cord. This condition can progressively damage the spinal cord tissue, leading to various debilitating symptoms that affect motor function, sensation, and overall quality of life. The syrinx typically forms in the cervical (neck) region of the spinal cord but can extend to other areas over time.
Understanding the symptoms of syringomyelia is crucial for early detection and proper management of this condition. The symptoms often develop slowly over months or years and can vary significantly depending on the size and location of the syrinx. Many individuals may not notice symptoms initially, but as the cavity expands, it compresses and damages nerve fibers in the spinal cord, resulting in characteristic signs and symptoms.
In this comprehensive guide, we’ll explore the ten most common symptoms of syringomyelia, helping you recognize the warning signs of this condition and understand when to seek medical attention.
1. Chronic Pain in the Neck, Shoulders, and Arms
One of the most prevalent symptoms of syringomyelia is persistent pain that typically begins in the neck and radiates to the shoulders, arms, and hands. This pain is often described as a deep, aching sensation or burning discomfort that can be constant or intermittent.
The pain occurs because the expanding syrinx within the spinal cord puts pressure on nerve fibers responsible for transmitting pain signals. The intensity of this pain can vary from mild to severe and may worsen with certain activities such as coughing, sneezing, or straining. Many patients report that the pain interferes with their daily activities and sleep patterns.
What makes this symptom particularly challenging is that the pain may not respond well to conventional pain medications, and its chronic nature can significantly impact a person’s quality of life. The pain pattern is often asymmetric, meaning it may be worse on one side of the body than the other, depending on where the syrinx is located within the spinal cord.
2. Loss of Temperature and Pain Sensation
A hallmark symptom of syringomyelia is the distinctive loss of ability to sense temperature and pain, particularly in the hands, arms, shoulders, and upper back. This condition is known as “dissociated sensory loss” and represents one of the most characteristic features of syringomyelia.
Individuals with this symptom may notice that they cannot feel hot or cold temperatures accurately. For example, they might accidentally burn themselves on hot water or a stove without feeling the heat initially. Similarly, they may not notice cuts, bruises, or injuries to their hands and arms because they cannot feel pain in these areas.
This occurs because the expanding syrinx specifically damages the nerve fibers that carry temperature and pain sensations as they cross through the center of the spinal cord. Interestingly, the sense of touch, vibration, and position often remains intact initially, which is why this is called “dissociated” sensory loss. This symptom typically affects both sides of the body in a cape-like distribution across the shoulders and upper back, though it may be more pronounced on one side.
3. Muscle Weakness and Atrophy
Progressive muscle weakness, particularly in the hands, arms, and shoulders, is a common and concerning symptom of syringomyelia. As the syrinx expands, it damages the motor neurons in the spinal cord that control muscle movement, leading to gradually increasing weakness.
Initially, patients may notice difficulty with fine motor tasks such as buttoning shirts, writing, or manipulating small objects. As the condition progresses, the weakness becomes more pronounced and can affect larger muscle groups. The muscles may also begin to atrophy (shrink or waste away) due to lack of nerve stimulation, leading to visible thinning of the affected muscles, especially in the hands and forearms.
This muscle weakness is typically more severe in the upper extremities, particularly the hands and arms, but can also affect the legs if the syrinx extends into the lower portions of the spinal cord. The weakness is often asymmetric, affecting one side more than the other. Patients may drop objects frequently, have difficulty gripping items, or struggle with tasks that require arm strength such as lifting or carrying objects.
4. Stiffness and Spasticity in the Legs
Many individuals with syringomyelia develop stiffness and spasticity in their legs, which can significantly impact mobility and walking ability. Spasticity refers to involuntary muscle tightness or stiffness that makes movement difficult and can cause muscles to resist stretching.
This symptom occurs when the syrinx damages the descending nerve pathways in the spinal cord that normally inhibit muscle tone. Without proper regulation, the muscles become overly tight and resistant to movement. Patients often describe their legs feeling “stiff,” “heavy,” or “like wooden boards.”
The spasticity typically affects both legs and can lead to a characteristic walking pattern called a spastic gait, where the legs are held close together and move in a stiff, scissor-like fashion. This can make walking difficult, increase the risk of falls, and cause fatigue due to the extra effort required for movement. The stiffness is often worse in the morning or after periods of inactivity and may be accompanied by painful muscle spasms or cramps, particularly at night.
5. Loss of Reflexes
Abnormal or absent reflexes are another important neurological sign of syringomyelia. The syrinx can damage the reflex arcs within the spinal cord, leading to diminished or absent deep tendon reflexes, particularly in the arms.
During a neurological examination, healthcare providers test reflexes by tapping tendons with a small hammer. In syringomyelia, reflexes such as the biceps, triceps, and brachioradialis reflexes in the arms may be reduced or completely absent. This occurs because the syrinx damages the lower motor neurons that form part of the reflex pathway.
Paradoxically, while arm reflexes may be decreased or absent, leg reflexes are often increased (hyperreflexia) due to damage to the upper motor neurons. This combination of decreased upper extremity reflexes and increased lower extremity reflexes is a characteristic pattern seen in syringomyelia and helps healthcare providers localize the problem to the spinal cord. Patients themselves may not notice changes in their reflexes, but these findings are important diagnostic clues during medical evaluation.
6. Scoliosis or Spinal Curvature
Abnormal curvature of the spine, known as scoliosis, can develop as a complication of syringomyelia, particularly when the condition begins in childhood or adolescence. The presence of a syrinx can lead to asymmetric muscle weakness and imbalanced forces on the spine, causing it to curve sideways.
Scoliosis associated with syringomyelia often develops gradually and may be one of the first noticeable signs of the condition in younger patients. The spinal curvature can range from mild to severe and may progress over time if the underlying syringomyelia is not addressed.
Visible signs of scoliosis include uneven shoulders, one shoulder blade that protrudes more than the other, an uneven waist, or one hip that appears higher than the other. In severe cases, the rib cage may also appear asymmetric. The scoliosis itself can cause additional symptoms such as back pain, restricted breathing if the curvature is severe, and cosmetic concerns. When scoliosis is detected, especially in children and adolescents, healthcare providers should consider syringomyelia as a possible underlying cause and conduct appropriate imaging studies.
7. Headaches
Headaches are a frequent symptom in individuals with syringomyelia, particularly when the condition is associated with Chiari malformation, where part of the brain extends into the spinal canal. These headaches have characteristic features that distinguish them from common tension or migraine headaches.
Syringomyelia-related headaches typically occur in the back of the head (occipital region) and upper neck. They are often described as pressure-like or throbbing and may be triggered or worsened by activities that increase pressure in the spinal canal, such as coughing, sneezing, laughing, straining during bowel movements, or bending over.
The headaches can range from mild to severe and may be accompanied by neck pain and stiffness. Some patients experience brief, sharp headaches that last only seconds to minutes (called “cough headaches”), while others have more persistent, chronic headaches. The pain may radiate from the back of the head to the forehead or temples. These headaches can be debilitating and may occur daily, significantly impacting quality of life and ability to perform normal activities.
8. Bowel and Bladder Dysfunction
As syringomyelia progresses, many patients develop problems with bowel and bladder control. These symptoms occur when the syrinx affects the nerve pathways that regulate the autonomic functions of the bladder and intestines.
Bladder dysfunction may manifest as urinary urgency (sudden, strong need to urinate), increased frequency of urination, difficulty initiating urination, incomplete bladder emptying, or in more severe cases, urinary retention or incontinence. Patients may find themselves needing to urinate more often during the night (nocturia) or experiencing accidental leakage of urine.
Bowel problems can include constipation, difficulty with bowel movements, reduced sensation of the need to defecate, or in some cases, fecal incontinence. These symptoms can be embarrassing and significantly impact social activities and quality of life. The combination of bladder and bowel dysfunction, along with other neurological symptoms, strongly suggests a spinal cord disorder like syringomyelia. Early recognition and management of these symptoms are important to prevent complications such as urinary tract infections or kidney problems.
9. Sexual Dysfunction
Sexual dysfunction is an often under-reported but significant symptom of syringomyelia that can affect both men and women. The nerve damage caused by the syrinx can interfere with the autonomic nervous system pathways involved in sexual function.
In men, sexual dysfunction may present as erectile dysfunction (difficulty achieving or maintaining an erection), reduced sensation in the genital area, difficulty with ejaculation, or decreased libido. Women may experience reduced genital sensation, difficulty with arousal, decreased vaginal lubrication, or difficulty achieving orgasm.
Both men and women may report decreased sexual satisfaction and reduced interest in sexual activity. These symptoms can have profound psychological and emotional impacts, affecting intimate relationships and self-esteem. The gradual onset of these symptoms, combined with other neurological signs, should prompt evaluation for conditions like syringomyelia. While sexual dysfunction can be challenging to discuss, it’s important for patients to communicate these symptoms to their healthcare providers, as they provide valuable diagnostic information and can be addressed as part of comprehensive care.
10. Excessive Sweating or Changes in Sweating Patterns
Abnormal sweating patterns represent another autonomic dysfunction that can occur in syringomyelia. The syrinx can damage nerve fibers that control sweat glands, leading to various sweating abnormalities.
Some patients experience hyperhidrosis (excessive sweating) on one side of the face, neck, or upper body, while others may have reduced or absent sweating (anhidrosis) in certain areas. The sweating pattern may be asymmetric, with one side of the body sweating normally while the other sweats excessively or not at all.
Patients might notice that they sweat profusely on their face and upper body even in cool environments or without physical exertion. Conversely, some individuals find that certain parts of their body no longer sweat during exercise or in hot weather, which can affect the body’s ability to regulate temperature. These changes in sweating patterns can be socially uncomfortable and may be accompanied by other autonomic symptoms such as changes in skin temperature or color. The presence of asymmetric or unusual sweating patterns, especially when combined with other neurological symptoms, warrants medical evaluation for possible syringomyelia.
Main Causes of Syringomyelia
Understanding the underlying causes of syringomyelia can help with prevention and early detection of this condition. The development of a syrinx within the spinal cord can result from various factors:
Chiari Malformation: The most common cause of syringomyelia is Chiari malformation type I, a structural defect where the lower part of the cerebellum (the cerebellar tonsils) extends through the opening at the base of the skull into the spinal canal. This abnormality disrupts the normal flow of cerebrospinal fluid and can lead to syrinx formation. Approximately 75% of syringomyelia cases are associated with Chiari malformation.
Spinal Cord Injury: Traumatic injury to the spinal cord from accidents, falls, or violence can lead to post-traumatic syringomyelia. The syrinx may develop months or even years after the initial injury as scar tissue forms and disrupts cerebrospinal fluid flow. This is sometimes called “post-traumatic syringomyelia.”
Spinal Cord Tumors: Both benign and malignant tumors within or near the spinal cord can obstruct the normal flow of cerebrospinal fluid, creating conditions favorable for syrinx formation. The tumor itself or the inflammation it causes can contribute to syrinx development.
Spinal Meningitis: Inflammation or infection of the membranes surrounding the spinal cord (meningitis) can cause scarring and adhesions that interfere with cerebrospinal fluid circulation, potentially leading to syringomyelia. This includes both infectious and non-infectious inflammatory conditions.
Spinal Arachnoiditis: Inflammation of the arachnoid membrane, one of the protective layers covering the spinal cord, can cause scarring that impedes fluid flow and creates conditions for syrinx formation. This can result from previous spinal surgery, infections, or chemical irritation.
Tethered Spinal Cord: When the spinal cord is abnormally attached to surrounding tissues, restricting its normal movement, it can create mechanical stress and altered fluid dynamics that promote syrinx development. This is more commonly seen in individuals with spinal dysraphism or congenital abnormalities.
Idiopathic Syringomyelia: In some cases, no clear cause can be identified despite thorough investigation. These cases are classified as idiopathic, meaning the cause is unknown. Research continues to explore potential genetic and developmental factors that might contribute to idiopathic syringomyelia.
Prevention of Syringomyelia
While it’s not always possible to prevent syringomyelia, particularly in cases related to congenital conditions like Chiari malformation, there are several measures that can reduce risk or detect the condition early:
Prevent Spinal Cord Injuries: Since trauma is a known cause of syringomyelia, taking safety precautions can help reduce risk. This includes wearing seatbelts in vehicles, using appropriate safety equipment during sports and recreational activities, wearing helmets when cycling or motorcycling, preventing falls especially in older adults by removing home hazards, and following workplace safety protocols.
Prompt Treatment of Spinal Infections: Seeking immediate medical attention for suspected spinal infections or meningitis can prevent complications that might lead to syringomyelia. Complete the full course of prescribed antibiotics and attend all follow-up appointments to ensure the infection is fully resolved.
Genetic Counseling: For individuals with a family history of Chiari malformation or syringomyelia, genetic counseling may provide valuable information about potential risks and screening options for family members.
Regular Monitoring After Spinal Cord Injury: Individuals who have sustained spinal cord injuries should have regular neurological evaluations and imaging studies as recommended by their healthcare provider. Early detection of syrinx formation allows for prompt intervention before significant symptoms develop.
Management of Associated Conditions: If you have been diagnosed with Chiari malformation or other conditions associated with syringomyelia, work closely with your healthcare provider to monitor the condition and consider treatment options if recommended. Regular MRI scans may be advised to detect syrinx formation early.
Awareness of Symptoms: Being aware of the early symptoms of syringomyelia and seeking prompt medical evaluation when they occur can lead to earlier diagnosis and intervention, potentially preventing progression and complications.
Frequently Asked Questions
What is the difference between a syrinx and syringomyelia?
A syrinx is the fluid-filled cavity or cyst that forms within the spinal cord, while syringomyelia is the medical condition or disease characterized by the presence of this syrinx. In other words, the syrinx is the physical abnormality, and syringomyelia is the disorder caused by it.
Is syringomyelia a progressive condition?
Syringomyelia can be progressive, but the rate of progression varies greatly among individuals. Some people experience slowly worsening symptoms over many years, while others may have symptoms that remain stable for long periods. In some cases, particularly after appropriate intervention, symptoms may improve or stabilize. Regular monitoring with MRI scans and neurological examinations helps track progression.
Can syringomyelia be detected on an X-ray?
No, a syrinx cannot be seen on a standard X-ray. Magnetic resonance imaging (MRI) is the gold standard for diagnosing syringomyelia, as it can clearly visualize the fluid-filled cavity within the spinal cord. X-rays may show associated conditions such as scoliosis or Chiari malformation-related bone changes, but cannot directly show the syrinx itself.
At what age does syringomyelia typically appear?
Syringomyelia most commonly presents in young adults between the ages of 20 and 40, although it can occur at any age. When associated with Chiari malformation, symptoms often begin in young adulthood. Post-traumatic syringomyelia may develop months to years after a spinal cord injury, regardless of the age at which the injury occurred.
Is syringomyelia hereditary?
Syringomyelia itself is not typically inherited directly, but some of the conditions that cause it, particularly Chiari malformation, may have a genetic component and can run in families. If you have a family history of Chiari malformation or syringomyelia, it’s worth discussing with your healthcare provider, though the overall hereditary risk is considered low.
Can syringomyelia cause paralysis?
In severe, untreated cases, syringomyelia can potentially lead to significant weakness and disability, though complete paralysis is uncommon. The progressive damage to the spinal cord can cause substantial muscle weakness and loss of function, particularly in the arms and hands. Early detection and appropriate management can help prevent severe disability.
Do symptoms of syringomyelia come and go?
While syringomyelia symptoms can vary in intensity, they typically don’t come and go in the same way as some other conditions. Most patients experience gradually progressive or stable symptoms. However, certain symptoms like pain or headaches may fluctuate in severity, and some symptoms may be more noticeable during certain activities or times of day.
Can you live a normal life with syringomyelia?
Many people with syringomyelia can maintain a good quality of life, especially with early diagnosis and appropriate management. The impact on daily life varies considerably depending on the size and location of the syrinx, the severity of symptoms, and how well the condition responds to intervention. Some individuals have minimal symptoms and few limitations, while others may require significant lifestyle modifications and ongoing care.
Should I avoid certain activities if I have syringomyelia?
Activity recommendations depend on individual circumstances and should be discussed with your healthcare provider. Generally, activities that involve heavy lifting, straining, or risk of spinal injury may need to be avoided or modified. High-impact sports or activities that could result in head or neck trauma should be approached with caution. Your doctor can provide personalized guidance based on your specific situation.
Can stress make syringomyelia symptoms worse?
While stress doesn’t directly cause syringomyelia or enlarge the syrinx, it can potentially worsen symptom perception, particularly pain. Stress can also increase muscle tension, which might exacerbate stiffness and spasticity. Managing stress through relaxation techniques, adequate sleep, and appropriate support can be beneficial as part of overall symptom management.
References:
- National Institute of Neurological Disorders and Stroke – Syringomyelia
- Mayo Clinic – Syringomyelia
- American Association of Neurological Surgeons – Syringomyelia
- National Organization for Rare Disorders – Syringomyelia
- Johns Hopkins Medicine – Syringomyelia
The information on this page is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider before making decisions related to your health.
Read the full Disclaimer here →