7 Key Spina Bifida Symptoms: Complete Guide to Warning Signs

Spina bifida is a neural tube defect that occurs when the spine and spinal cord don’t form properly during pregnancy. This congenital condition affects the backbone and spinal cord, resulting in a gap or opening in the spine. The severity of spina bifida can vary significantly, ranging from mild cases with no noticeable symptoms to severe forms that cause significant physical and neurological impairments. Understanding the symptoms of spina bifida is crucial for early detection and appropriate medical intervention.

The symptoms of spina bifida depend largely on the type and severity of the condition. There are three main types: spina bifida occulta (the mildest form), meningocele, and myelomeningocele (the most severe form). While some individuals may live their entire lives without knowing they have spina bifida occulta, others with more severe forms may experience life-altering symptoms that require ongoing medical care and support.

1. Visible Opening or Sac on the Back

One of the most obvious and recognizable symptoms of spina bifida is a visible abnormality on the baby’s back, typically present at birth. In cases of myelomeningocele, the most severe form of spina bifida, a sac-like protrusion can be seen on the back, usually in the lower spine region. This sac contains portions of the spinal cord, nerves, and the protective covering of the spinal cord (meninges) that have pushed through the opening in the spine.

The sac may appear as a fluid-filled bulge covered by a thin layer of skin, or in some cases, the nerves and spinal tissue may be exposed without any skin covering. The size of this protrusion can vary considerably, and it’s typically located in the lumbar (lower back) or sacral region of the spine, though it can occur anywhere along the spinal column.

This visible defect is usually identified immediately after birth during the initial physical examination. In cases of meningocele, a less severe form, the sac contains only the protective membranes and cerebrospinal fluid, without spinal cord or nerve involvement, which generally results in fewer neurological complications.

2. Weakness or Paralysis in the Legs

Leg weakness or paralysis is one of the most significant and life-impacting symptoms of spina bifida, particularly in cases of myelomeningocele. The degree of weakness or paralysis depends on the location and severity of the spinal defect. Generally, the higher up on the spine the defect occurs, the more severe the paralysis or weakness will be.

Children with spina bifida may experience:

• Complete paralysis of both legs (paraplegia)
• Partial weakness in one or both legs
• Difficulty moving the ankles, knees, or hips
• Reduced muscle tone in the lower extremities
• Inability to bear weight or walk without assistance

The muscle weakness occurs because the nerves that control leg movement are damaged or not properly formed due to the spinal defect. This can affect a child’s ability to achieve normal developmental milestones such as crawling, standing, and walking. Many children with significant leg weakness require mobility aids such as braces, walkers, wheelchairs, or other assistive devices to move around.

The severity of leg involvement can sometimes be predicted based on the level of the spinal lesion, with lower lesions generally causing less extensive weakness and higher lesions causing more widespread paralysis.

3. Bowel and Bladder Control Problems

Bowel and bladder dysfunction is an extremely common symptom in individuals with spina bifida, affecting the majority of people with myelomeningocele and some with less severe forms. These problems occur because the nerves that control the bladder and bowel are located in the lower part of the spinal cord, which is often affected by spina bifida.

Common bowel and bladder issues include:

• Inability to control urination (urinary incontinence)
• Incomplete bladder emptying, leading to urinary retention
• Frequent urinary tract infections due to incomplete bladder emptying
• Lack of sensation indicating when the bladder is full
• Constipation and difficulty with bowel movements
• Fecal incontinence or lack of bowel control
• Reduced or absent sensation of needing to have a bowel movement

These symptoms can have significant impacts on daily life and require ongoing management strategies. Urinary problems, if not properly managed, can lead to serious complications such as kidney damage, kidney infections, or kidney stones. Many individuals with spina bifida need to use catheterization techniques to empty their bladders completely and may require specific bowel management programs to maintain regularity and continence.

4. Loss of Sensation in the Legs and Feet

Reduced or complete loss of sensation in the lower extremities is a hallmark symptom of spina bifida. The sensory nerves that carry information about touch, temperature, pain, and pressure from the legs and feet to the brain are damaged or improperly formed in individuals with this condition.

This loss of sensation can manifest as:

• Inability to feel pain in the legs or feet
• Reduced awareness of temperature (unable to tell if something is hot or cold)
• Lack of sensation when touching the skin
• Inability to feel pressure or know the position of the feet without looking
• Numbness or tingling sensations in affected areas

The lack of sensation poses several risks and challenges. Individuals may not notice injuries, cuts, burns, or pressure sores developing on their feet or legs. They may not feel blisters forming from ill-fitting shoes or braces. This can lead to serious wounds or infections that go unnoticed until they become severe. People with spina bifida need to regularly inspect their skin, particularly on the feet, legs, and buttocks, to check for any signs of injury or skin breakdown.

The level of sensory loss typically corresponds to the level of the spinal defect, with higher defects causing more extensive sensory impairment throughout the lower body.

5. Orthopedic Abnormalities and Skeletal Deformities

Individuals with spina bifida frequently develop various orthopedic problems and skeletal abnormalities due to the muscle weakness, imbalances, and nerve damage associated with the condition. These deformities can be present at birth or may develop as the child grows.

Common orthopedic symptoms include:

• Clubfoot: One or both feet may be turned inward and downward, a condition called talipes equinovarus
• Hip dislocation or dysplasia: The hip joints may be unstable, partially dislocated, or completely dislocated due to muscle imbalance
• Scoliosis: Abnormal curvature of the spine from side to side
• Kyphosis: Excessive forward rounding of the upper back
• Contractures: Permanent tightening of muscles, tendons, and joints that limits movement
• Leg length discrepancies: One leg may be shorter than the other
• Foot deformities: Including high arches, flat feet, or other structural abnormalities
• Knee deformities: Such as knocked knees or bowed legs

These skeletal abnormalities can affect mobility, balance, and the ability to use assistive devices effectively. They may also cause pain or discomfort and can worsen over time if not properly monitored. Many individuals with spina bifida require orthotic devices such as braces or special shoes to help maintain proper alignment and support mobility.

6. Hydrocephalus and Related Neurological Symptoms

Hydrocephalus, or excessive accumulation of cerebrospinal fluid in the brain, occurs in approximately 70-90% of children with myelomeningocele. This condition develops because spina bifida is often associated with a malformation called Chiari II malformation, which affects how cerebrospinal fluid drains from the brain.

Symptoms of hydrocephalus in infants include:

• Rapid increase in head circumference
• A bulging or tense soft spot (fontanelle) on top of the head
• Prominent or bulging veins on the scalp
• Downward deviation of the eyes (“sunset eyes”)
• Irritability and excessive crying
• Poor feeding or vomiting
• Sleepiness or difficulty staying awake
• Seizures

In older children and adults, hydrocephalus symptoms may include:

• Severe headaches
• Nausea and vomiting
• Vision problems or blurred vision
• Difficulty with balance and coordination
• Cognitive difficulties or changes in mental function
• Personality changes or behavioral problems
• Urinary incontinence

If left untreated, hydrocephalus can cause brain damage and serious neurological complications. The condition typically requires surgical intervention, but it’s important to note that families should consult with qualified medical professionals to discuss appropriate management options.

7. Skin Abnormalities Over the Affected Area

In milder cases of spina bifida, particularly spina bifida occulta, there may be subtle skin abnormalities over the area of the spinal defect. These skin markers can be the only visible sign of the underlying condition and are important clues that may prompt further medical investigation.

Common skin manifestations include:

• Dimple or small indentation: A small pit or depression in the skin over the lower back or sacral area
• Birthmark: A port-wine stain or other type of birthmark located over the spine
• Abnormal hair growth: A patch of hair, sometimes called a “faun tail,” growing over the defect area
• Lipoma: A fatty lump or mass beneath the skin over the spine
• Skin tag: A small growth of skin over the affected area
• Abnormal skin pigmentation: An area of darkened or discolored skin over the spinal region

While these skin signs may seem minor, they can indicate an underlying spinal abnormality. In spina bifida occulta, the spinal defect is hidden and may not cause any symptoms, or symptoms may not appear until later in life. However, some individuals with spina bifida occulta may develop symptoms during periods of rapid growth or as adults, including back pain, leg weakness, or bowel and bladder problems.

Any unusual skin markings along the spine, especially in the lower back region of a newborn, should be evaluated by a healthcare provider to determine if further imaging or investigation is needed.

What Causes Spina Bifida?

The exact cause of spina bifida is not completely understood, but research has identified several factors that contribute to its development. Spina bifida occurs during the first month of pregnancy when the neural tube, which eventually forms the brain and spinal cord, fails to close completely. This happens very early in pregnancy, often before a woman even knows she is pregnant.

Key contributing factors include:

• Folic acid deficiency: Inadequate levels of folic acid (vitamin B9) before and during early pregnancy significantly increase the risk of neural tube defects. Women who do not get enough folic acid are at much higher risk of having a baby with spina bifida.
• Genetic factors: There appears to be a genetic component to spina bifida. Parents who have one child with spina bifida have a higher chance of having another child with the condition. Additionally, a person with spina bifida has a higher chance of having a child with the condition.
• Maternal diabetes: Women with diabetes, particularly if poorly controlled before and during early pregnancy, have an increased risk of having a baby with spina bifida.
• Obesity: Pre-pregnancy obesity is associated with a higher risk of neural tube defects.
• Medications: Certain medications, particularly some anti-seizure medications, may increase the risk of spina bifida when taken during pregnancy. Women taking these medications should consult with their healthcare provider before becoming pregnant.
• Elevated body temperature: Fever or use of saunas or hot tubs during early pregnancy may increase the risk of neural tube defects.
• Hispanic ethnicity: For reasons not fully understood, Hispanic women have a higher rate of having babies with spina bifida compared to non-Hispanic white and Black women.

The development of spina bifida likely results from a combination of genetic and environmental factors rather than a single cause. Research continues to identify additional risk factors and protective factors that influence neural tube development.

Prevention of Spina Bifida

While not all cases of spina bifida can be prevented, significant research has shown that certain measures can substantially reduce the risk of this condition. The most important preventive measure involves adequate folic acid intake before and during early pregnancy.

Folic Acid Supplementation:

Taking folic acid supplements is the single most effective way to reduce the risk of spina bifida and other neural tube defects. Research has demonstrated that adequate folic acid intake can prevent up to 70% of neural tube defects.

• All women of childbearing age should take 400 micrograms (0.4 mg) of folic acid daily, even if not planning pregnancy
• Women planning to become pregnant should ensure they are taking adequate folic acid at least one month before conception
• Folic acid should be continued throughout the first trimester of pregnancy
• Women who have previously had a pregnancy affected by a neural tube defect should consult their healthcare provider about higher doses of folic acid (typically 4000 micrograms daily)
• Women taking certain medications or with certain medical conditions may require higher doses and should discuss this with their doctor

Other Preventive Measures:

• Consume folate-rich foods: In addition to supplements, eating foods naturally rich in folate (such as leafy green vegetables, citrus fruits, beans, and fortified cereals) supports healthy neural tube development
• Manage chronic conditions: Women with diabetes should work to achieve good blood sugar control before becoming pregnant and maintain it throughout pregnancy
• Achieve a healthy weight: Reaching a healthy weight before pregnancy can reduce the risk of neural tube defects
• Avoid overheating: Limit use of hot tubs and saunas during early pregnancy, and treat fevers promptly
• Medication review: Women taking medications, especially anti-seizure drugs, should discuss the risks and benefits with their healthcare provider before becoming pregnant
• Prenatal care: Early and regular prenatal care allows for screening and monitoring that can detect neural tube defects
• Genetic counseling: Families with a history of neural tube defects may benefit from genetic counseling to understand their risks and options

It’s important to note that because neural tube development occurs very early in pregnancy (typically before week 4), prevention measures must be in place before conception occurs. This is why healthcare providers recommend that all women of childbearing age take folic acid daily, regardless of pregnancy plans.

Frequently Asked Questions

Can spina bifida be detected before birth?

Yes, spina bifida can often be detected during pregnancy through prenatal screening tests. Maternal blood tests measuring alpha-fetoprotein (AFP) levels, detailed ultrasound examinations, and sometimes amniocentesis can identify many cases of spina bifida before birth, typically during the second trimester.

Do all people with spina bifida have the same symptoms?

No, symptoms vary greatly depending on the type and severity of spina bifida. Spina bifida occulta may cause no symptoms at all, while myelomeningocele typically causes significant neurological impairment. The location and size of the spinal defect also influence which symptoms appear and their severity.

Can someone with spina bifida occulta develop symptoms later in life?

Yes, some people with spina bifida occulta remain symptom-free throughout life, but others may develop symptoms during childhood growth spurts, adolescence, or adulthood. Symptoms might include back pain, leg weakness, numbness, or bowel and bladder problems.

Is spina bifida hereditary?

Spina bifida has a genetic component, but it is not inherited in a simple pattern. If parents have one child with spina bifida, their risk of having another child with the condition increases to approximately 3-5%. A person with spina bifida also has a slightly higher chance of having a child with the condition.

Can people with spina bifida walk?

Walking ability varies greatly among individuals with spina bifida. Some people with mild forms can walk without assistance, others may walk with braces or other assistive devices, and some with severe myelomeningocele may use wheelchairs. The level of the spinal lesion is the primary factor determining mobility potential.

How common is hydrocephalus in spina bifida?

Hydrocephalus is very common in children with myelomeningocele, occurring in approximately 70-90% of cases. It is less common in milder forms of spina bifida. The association with Chiari II malformation in myelomeningocele is the primary reason for this high rate of hydrocephalus.

Are people with spina bifida intellectually disabled?

Most people with spina bifida have normal intelligence. However, some may have learning disabilities or cognitive challenges, particularly if they have had hydrocephalus or experienced complications related to it. Early intervention and educational support can help children with spina bifida reach their full potential.

Can spina bifida symptoms worsen over time?

Some aspects of spina bifida can change over time. Tethered spinal cord syndrome, where scar tissue attaches the spinal cord to surrounding tissues, can develop and cause worsening symptoms. Orthopedic problems may progress during growth periods. Regular medical monitoring is important to detect and address any changes.

What is the difference between spina bifida occulta and myelomeningocele?

Spina bifida occulta is the mildest form, where there is a small gap in the spine but the spinal cord and nerves are normal and usually covered by skin. It often causes no symptoms. Myelomeningocele is the most severe form, where a sac containing spinal cord and nerves protrudes through an opening in the spine, causing significant neurological problems.

Should I consult a doctor if I notice skin abnormalities on my baby’s back?

Yes, any unusual skin markings along the spine, particularly dimples, hairy patches, birthmarks, or lumps in the lower back area, should be evaluated by a healthcare provider. While these may be harmless, they can sometimes indicate an underlying spinal abnormality that requires further investigation.

References:

• Mayo Clinic – Spina Bifida
• Centers for Disease Control and Prevention – Spina Bifida Facts
• National Institute of Neurological Disorders and Stroke – Spina Bifida
• NHS – Spina Bifida
• Johns Hopkins Medicine – Spina Bifida