Spina Bifida

Spina bifida is a congenital condition that develops when the spine and spinal cord do not form completely during early pregnancy. Its effects can range from a small spinal bone defect with no symptoms to more complex forms involving the spinal cord, nerves, bladder, bowel, lower limbs, and mobility.

Spina bifida is not a single uniform condition. The type and level of the spinal defect, associated neurological involvement, hydrocephalus, tethered spinal cord, orthopedic deformities, and individual development all influence symptoms and treatment needs.

What Is Spina Bifida?

Spina bifida is a type of neural tube defect.

During early fetal development, the neural tube normally closes and later forms the brain and spinal cord. In spina bifida, part of this developmental process is incomplete.

The resulting defect can involve the vertebrae alone or can also involve the meninges, spinal cord, and nerve roots.

What Causes Spina Bifida?

Spina bifida is considered a multifactorial condition rather than the result of one single cause.

Factors associated with increased risk may include:

• Low folate levels before and during early pregnancy
• Genetic susceptibility
• Previous pregnancy affected by a neural tube defect
• Certain medications
• Maternal diabetes
• Maternal obesity
• Elevated body temperature during very early pregnancy in some circumstances

In many cases, no single cause can be identified.

What Are the Main Types of Spina Bifida?

What Is Spina Bifida Occulta?

Spina bifida occulta means that one or more vertebral arches do not fully close, but there is no open spinal lesion.

It is often discovered incidentally on imaging and may not cause any symptoms.

A simple vertebral arch defect should not automatically be assumed to explain back pain, weakness, or neurological symptoms.

Can Spina Bifida Occulta Cause Symptoms?

Many people with isolated spina bifida occulta are completely asymptomatic.

Symptoms are more concerning when the bony defect is associated with another spinal abnormality such as tethered cord, lipoma, dermal sinus, or other forms of occult spinal dysraphism.

What Is Myelomeningocele?

Myelomeningocele is a form of open spina bifida in which spinal cord tissue, nerve roots, and their coverings can protrude through an opening in the spine.

Neurological function below the level of the lesion can be affected.

The extent of weakness, sensation loss, bladder dysfunction, bowel dysfunction, and orthopedic deformity differs considerably between individuals.

What Symptoms Can Spina Bifida Cause?

Depending on the level and severity, possible findings include:

• Weakness or paralysis of the legs
• Reduced or absent sensation
• Difficulty walking
• Foot and ankle deformities
• Hip or knee deformity
• Scoliosis
• Contractures
• Bladder dysfunction
• Bowel dysfunction
• Skin problems due to reduced sensation
• Hydrocephalus in some forms
• Tethered spinal cord

Does the Level of the Spinal Lesion Matter?

Yes.

In general, higher spinal lesions have the potential to affect more muscle groups and larger areas of sensation than lower lesions.

However, functional ability cannot be predicted from the anatomical level alone. Muscle strength, contractures, balance, body weight, associated neurological conditions, orthopedic alignment, and rehabilitation all influence mobility.

Can People With Spina Bifida Walk?

Many can.

Some people walk independently, while others use ankle-foot orthoses, knee-ankle-foot orthoses, crutches, walkers, or wheelchairs.

Mobility may also change during growth because body size, deformity, muscle strength, energy requirements, and joint problems change over time.

What Orthopedic Problems Can Occur?

Muscle imbalance, reduced sensation, paralysis, abnormal loading, and growth can contribute to orthopedic deformities.

Possible problems include:

• Clubfoot or equinovarus deformity
• Calcaneus or equinus deformity
• Cavus or valgus foot deformity
• Hip instability or dislocation
• Hip and knee contractures
• Rotational deformities of the legs
• Knee flexion or extension deformity
• Scoliosis
• Kyphosis
• Leg-length differences

Why Do Foot Deformities Develop?

Foot deformities often develop because some muscles are stronger than others while certain muscles are weak or paralyzed.

This imbalance can gradually pull the foot into an abnormal position.

Reduced sensation also increases the importance of obtaining a plantigrade, braceable foot because abnormal pressure can lead to skin breakdown.

Why Is Skin Care Important?

Areas with reduced sensation may not produce normal pain signals when exposed to pressure, heat, friction, or injury.

A patient may therefore develop a pressure sore, blister, burn, or skin wound without realizing how serious it is.

Regular inspection of the feet, ankles, brace contact areas, and sitting surfaces is an important part of long-term care.

Can Spina Bifida Cause Scoliosis?

Yes.

Scoliosis may occur because of muscle weakness, congenital spinal abnormalities, pelvic imbalance, neurological changes, or tethered cord.

Not every spinal curve requires surgery. Progression, sitting balance, walking ability, pulmonary function, pain, and skin problems are considered when planning treatment.

Can Hip Dislocation Occur?

Hip instability or dislocation can occur in some children with spina bifida due to muscle imbalance and altered development of the hip.

Treatment is not based on X-ray appearance alone.

Functional level, pain, range of motion, sitting balance, walking ability, and the risk of creating stiffness are important when deciding whether treatment is necessary.

What Is Tethered Cord Syndrome?

Tethered cord syndrome occurs when the spinal cord is abnormally attached to surrounding tissues and becomes stretched as the child grows or as spinal movement occurs.

It can occur in people with repaired myelomeningocele and in some forms of occult spinal dysraphism.

What Are the Symptoms of a Tethered Spinal Cord?

Possible warning signs include:

• New or progressive leg weakness
• Loss of previously achieved walking ability
• Increasing foot deformity
• Worsening scoliosis
• New pain in the back or legs
• Changes in sensation
• New bladder dysfunction
• New bowel dysfunction

These changes warrant neurological or neurosurgical evaluation rather than being automatically attributed to growth or existing deformity.

What Is Hydrocephalus?

Hydrocephalus is an abnormal accumulation of cerebrospinal fluid within the brain.

It can occur in association with myelomeningocele and Chiari II malformation.

Some patients require a shunt or another neurosurgical procedure to manage cerebrospinal fluid circulation.

What Is Chiari II Malformation?

Chiari II malformation is a developmental abnormality involving structures at the back of the brain and upper spinal canal and is strongly associated with myelomeningocele.

Its clinical significance varies.

Problems with swallowing, breathing, upper-extremity function, or other neurological symptoms require specialist evaluation.

Can Spina Bifida Affect the Bladder?

Yes.

Nerve dysfunction can interfere with bladder filling, bladder emptying, sphincter control, or a combination of these.

Neurogenic bladder management is important not only for continence but also for protecting kidney function.

Can Spina Bifida Affect Bowel Function?

Yes.

Neurogenic bowel can cause constipation, reduced sensation, difficulty with bowel emptying, or incontinence.

Bowel management programs are individualized and may include diet, medications, scheduled toileting, rectal treatments, irrigation systems, or selected surgical procedures.

How Is Spina Bifida Diagnosed Before Birth?

Open neural tube defects may be suspected during prenatal screening.

Maternal blood testing and prenatal ultrasound can identify findings associated with spina bifida.

Fetal MRI may be used in selected pregnancies when more detailed evaluation of the fetal brain and spine is needed.

Can Spina Bifida Be Diagnosed After Birth?

Yes.

Open forms are generally apparent at birth, while some closed or occult spinal abnormalities may not become obvious until later.

Skin findings over the lower spine can sometimes lead to investigation for occult spinal dysraphism.

What Skin Findings Can Suggest an Occult Spinal Abnormality?

Findings that may warrant evaluation in selected infants include:

• An atypical deep sacral dimple
• A patch of unusual hair
• Skin discoloration
• A subcutaneous fatty mass
• A dermal sinus opening
• An unusual skin tag
• Asymmetry of the gluteal cleft

Many minor skin findings are benign, so their significance depends on location, appearance, and associated neurological or orthopedic findings.

What Imaging Is Used?

Imaging depends on age and the clinical question.

Possible studies include:

• Spinal ultrasound in selected young infants
• MRI of the spinal cord
• Brain MRI when neurological abnormalities are being evaluated
• X-rays for spinal and limb alignment
• Standing radiographs in ambulatory children when appropriate
• CT in selected complex bony situations

How Is Spina Bifida Treated?

There is no single treatment plan for all patients.

Management can involve neurosurgery, orthopedics, urology, rehabilitation, physical therapy, occupational therapy, pediatric care, and other specialties.

The goal is not simply to correct X-rays but to preserve neurological function, mobility, independence, joint position, skin health, and quality of life.

How Is Open Spina Bifida Treated After Birth?

Open myelomeningocele generally requires early specialist management to protect exposed neural tissue and close the defect.

Surgical closure does not restore spinal cord or nerve tissue that was already developmentally impaired.

Long-term neurological, orthopedic, bladder, bowel, and developmental follow-up remains important after closure.

Can Spina Bifida Be Treated Before Birth?

Fetal surgery for selected cases of myelomeningocele is available in specialized centers.

Prenatal repair may reduce certain complications in appropriately selected pregnancies but also carries significant maternal and fetal risks.

It is not suitable for every pregnancy and requires evaluation by a specialized multidisciplinary fetal surgery team.

What Is the Role of Orthopedic Treatment?

Orthopedic treatment addresses deformities that interfere with mobility, bracing, sitting, shoe wear, skin protection, or daily function.

Treatment decisions should consider neurological level and muscle function because an anatomically straight limb is not necessarily a more functional limb.

Are Braces Used?

Yes.

Orthoses can help stabilize weak joints, improve alignment, assist standing and walking, and protect the foot.

Depending on muscle function, options may include:

• Ankle-foot orthoses
• Knee-ankle-foot orthoses
• Ground-reaction orthoses
• Custom footwear
• Other individualized bracing systems

Is Physical Therapy Important?

Yes.

Rehabilitation aims to maximize the strength that is available, maintain joint movement, prevent avoidable contractures, improve balance, support mobility, and promote independence.

Therapy cannot restore muscle function when the nerve supply is absent, but it can help patients use existing function more effectively.

Can Exercise Strengthen Paralyzed Muscles?

A muscle without functioning motor nerve supply cannot be strengthened in the same way as a normally innervated muscle.

Exercise can strengthen muscles with preserved innervation and improve endurance, balance, transfers, walking efficiency, and upper-body function.

When Is Orthopedic Surgery Considered?

Surgery may be considered when structural deformity causes functional problems that cannot be adequately managed with bracing and rehabilitation.

Possible indications include:

• A rigid foot that cannot fit safely into a brace
• Progressive deformity causing pressure sores
• Contractures that interfere with standing or walking
• Progressive spinal deformity
• Selected rotational or angular deformities
• Joint instability causing functional problems

What Operations May Be Used?

Procedures depend on the specific deformity and remaining muscle function.

They may include:

• Tendon release or lengthening
• Tendon transfer
• Corrective osteotomy
• Foot reconstruction
• Joint stabilization
• Selected fusion procedures
• Spinal deformity surgery

Can Tendon Transfer Restore Normal Muscle Power?

No.

Tendon transfer redirects the force of a functioning muscle to perform a different movement.

It redistributes existing muscle power and does not create new nerve function.

Is Fusion Used for Foot Deformity?

Fusion may be considered in selected severe rigid deformities when a stable plantigrade foot cannot be obtained with less invasive reconstruction.

Because sensation may be reduced and long-term joint loading is important, fusion is not automatically the first choice in every child.

Should Every Hip Dislocation Be Surgically Reduced?

No.

In spina bifida, surgical decisions about the hip are strongly influenced by neurological level, walking potential, range of motion, pain, sitting balance, and the risk of creating stiffness.

A hip that looks abnormal on X-ray does not automatically require reconstruction.

Can Adults With Spina Bifida Develop New Orthopedic Problems?

Yes.

Adults can develop joint pain, degenerative arthritis, contractures, scoliosis progression, pressure sores, overuse problems in the shoulders and arms, obesity-related mobility difficulties, and changes in walking ability.

New neurological symptoms should also raise concern for tethered cord, spinal stenosis, or another neurological condition.

Can Adults With Spina Bifida Develop Arthritis?

Yes.

Long-term abnormal joint loading, deformity, muscle weakness, body weight, altered walking mechanics, and aging can contribute to degenerative changes.

Treatment must consider both the arthritic joint and the underlying neurological condition.

Why Can Walking Ability Change With Age?

Walking with weakness or braces can require considerable energy.

As body weight increases and orthopedic deformities or joint problems develop, some people may choose or need wheelchairs for longer distances even if they continue to walk for shorter distances.

Using a wheelchair when appropriate should be viewed as a mobility strategy rather than simply a treatment failure.

Why Is Weight Management Important?

Maintaining an appropriate body weight can reduce mechanical stress on joints, make transfers easier, improve brace fitting, and reduce the energy required for walking.

Nutrition and activity programs should be adapted to the individual's neurological function and mobility level.

Are Pressure Sores a Risk?

Yes.

Reduced sensation, deformity, prolonged sitting, poorly fitting braces, and limited mobility can increase the risk of pressure wounds.

Persistent redness, skin breakdown, drainage, swelling, or an unexplained wound should be evaluated promptly.

Can Bone Fractures Occur Without Severe Pain?

Yes.

Reduced sensation can make fractures less painful than expected, and decreased weight bearing may also affect bone density.

New swelling, deformity, warmth, or sudden loss of walking ability can therefore require imaging even when pain is limited.

Is Latex Allergy Associated With Spina Bifida?

People with spina bifida have historically had a higher risk of latex sensitization and allergy, particularly after repeated medical and surgical exposure.

Known or suspected latex allergy should be communicated to healthcare teams before examinations and procedures.

Can Spina Bifida Be Prevented?

Not every case can be prevented.

Adequate folic acid before conception and during the early weeks of pregnancy significantly reduces the risk of neural tube defects.

Women planning pregnancy should discuss appropriate folic acid supplementation with their physician, particularly if they have previously had a pregnancy affected by a neural tube defect or have other risk factors.

Does Folic Acid Treat Existing Spina Bifida?

No.

Folic acid is important for reducing the risk of neural tube defects before and during early pregnancy, but it does not reverse a spinal defect once it has developed.

Can People With Spina Bifida Live Independently?

Many people with spina bifida achieve substantial independence.

The level of support required varies according to mobility, hand function, bladder and bowel management, cognitive factors, education, accessibility, and associated medical conditions.

Long-term care should focus on participation in school, work, sports, social life, and independent decision-making as well as medical treatment.

Why Is Lifelong Follow-Up Important?

Spina bifida is a lifelong condition and medical priorities can change with growth and aging.

Regular follow-up may help identify changes in neurological function, bladder health, spinal alignment, mobility, joint deformity, skin condition, and equipment needs before they cause major functional loss.

When Is Urgent Medical Evaluation Needed?

Prompt assessment is particularly important when there is:

• New or rapidly increasing leg weakness
• Sudden loss of previously established walking ability
• New bladder or bowel dysfunction
• Rapidly progressing scoliosis or foot deformity
• Severe new back or leg pain
• Unexplained swelling or suspected fracture
• Deep pressure wound or signs of infection
• New breathing or swallowing difficulty
• Symptoms suggesting shunt malfunction in a patient with hydrocephalus

Spina Bifida Orthopedic Treatment in Antalya

Orthopedic treatment of spina bifida requires evaluation of neurological level, muscle strength, sensation, walking ability, brace requirements, hip and knee alignment, foot position, spinal deformity, and skin condition.

Bracing, rehabilitation, walking aids, wheelchair support, and regular monitoring are sufficient for many orthopedic problems. Surgery may be considered when a rigid or progressive deformity interferes with mobility, brace use, skin protection, sitting balance, or daily activities.

Because spina bifida can also involve the spinal cord, bladder, bowel, and brain, orthopedic treatment is most effective when coordinated with the relevant neurological, neurosurgical, urological, and rehabilitation teams.

Frequently Asked Questions About Spina Bifida

What is spina bifida?

Spina bifida is a congenital neural tube defect in which part of the spine and, in some forms, the spinal cord and nerve tissues do not develop normally.

Is spina bifida always severe?

No. Severity ranges from asymptomatic spina bifida occulta to complex myelomeningocele with neurological, bladder, bowel, and orthopedic problems.

Can a child with spina bifida walk?

Many children can walk independently or with braces and walking aids. Others primarily use wheelchairs depending on neurological level and overall function.

Does spina bifida cause foot deformities?

Yes. Muscle imbalance and neurological weakness can contribute to clubfoot, equinus, cavus, valgus, and other foot deformities.

Is spina bifida occulta dangerous?

Isolated spina bifida occulta is often asymptomatic. Additional spinal abnormalities such as tethered cord are more clinically significant when present.

What is tethered cord syndrome?

Tethered cord occurs when the spinal cord is abnormally attached and placed under tension, potentially causing new weakness, deformity, pain, or bladder and bowel changes.

Does every orthopedic deformity require surgery?

No. Surgery is generally considered when deformity interferes with function, bracing, skin protection, mobility, or sitting balance.

Can surgery restore paralyzed muscles?

Orthopedic surgery can improve alignment and function but cannot restore motor nerve cells that are absent or permanently damaged.

Can adults with spina bifida develop new problems?

Yes. Adults may develop arthritis, pressure sores, overuse problems, spinal deformity, mobility changes, or new neurological symptoms requiring reassessment.

Can folic acid reduce the risk of spina bifida?

Adequate folic acid before conception and during early pregnancy can significantly reduce the risk of neural tube defects, although it cannot prevent every case.