Dr. John A. Schlechter - Pediatric Orthopedic Surgeon - Fracture Care, Sports Medicine and Arthroscopy for Children and Adolescents
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Dr. John A. Schlechter - Pediatric Orthopedic Surgeon - Fracture Care, Sports Medicine and Arthroscopy for Children and Adolescents: (714) 633-2111
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Dr. John A. Schlechter
Dr. John A. Schlechter - Pediatric Orthopedic Surgeon

Patient Info

Spine

Back Pain :: Congenital Scoliosis :: Early onset scoliosis :: General information on Spine
Idiopathic Scoliosis :: Kyphosis :: Low back strain :: Neuromuscular Disorders
Other congenital vertebral anomalies :: Spina Bifida

Back Pain

Back pain is often a common symptom of many disease conditions and the back pain may range from simple or dull pain to sudden and sharp pain. If the pain persists for few days, it is acute pain whereas if continues for more than 3 months, it is considered as chronic pain. In most cases, back pain may resolve without any treatment however if persists for more than 3 days, medical intervention is necessary.

Back pain may be a common symptom in various conditions such as appendicitis, aneurysms, kidney diseases, kidney and bladder infections, ovarian disorders, pregnancy, nerve root syndromes such as sciatica, herniated discs, spinal stenosis, musculoskeletal problems, osteomyelitis, spondylitis, tumors, spine injuries, fractures, and many more.

Back pain can be alleviated with rest and RICE (Rest, Ice, Compression, and elevation) treatment, pain relievers, nonsteroidal anti-inflammatory drugs, corticosteroids, and physical therapy. However certain conditions causing severe pain may require surgical treatment. Treating underlying conditions offer the relief from back pain.

One of the common causes for back pain is low back strain. Low back strain or lumbar strain occurs when the muscle or the tendon in the lower back gets stretched or torn. It is caused by lifting heavy objects or overload, sitting or standing for a longer time, direct blow over the area, or sports such as basketball, baseball, or golf that involve sudden twisting of lower back can also lead to strain.

The risk factors such as excess low back curvature, weak abdominal muscles, and forwardly tilted pelvis can increase the risk of this injury.

The common symptoms include low back pain that radiates down to the buttocks; inflammation of the soft tissues that surround the muscles; stiffness in the low back; restricted movements; inability to maintain correct posture; muscle spasms; and pain which continues for a longer period.

Your doctor will perform a physical examination and take a brief medical history to diagnose your child's condition. Other additional tests such as X-ray and MRI scan may be required to confirm the injury and provide necessary treatment.

The conservative treatment methods include:

  • Rest: Your child should take complete rest for 1-3 days, as more damage could result from putting pressure on the back. Prolonged bed rest should also be avoided as it leads to loss of muscle strength and makes the muscles stiff which will aggravate pain and discomfort. Hence bed rest should not be continued for more than 48 hours.
  • Ice packs can be applied to the injury which will help to diminish swelling and pain. Ice should be applied over a towel to the affected area for 15-20 minutes four times a day for several days. Never place ice directly over the skin.
  • Braces or belt might be used to support the back while the healing happens.
  • Medications that may be prescribed include nonsteroidal anti-inflammatory drugs to reduce pain and inflammation. Other medicines such as muscle relaxants control muscle spasms. These medicines often cause sedation; therefore, consult your doctor to discuss about the type of muscle relaxants for your child.
  • Your doctor may also suggest a rehabilitation program for your child. It consists of stretching and strengthening exercises, pelvic traction, gentle massages, and ice or heat therapy to improve your child's condition. It helps to control the pain, strengthen the abdominal muscles, and also speeds up the recovery which allows your child to return to the weight-bearing activities.

Some of the preventive measures which can help prevent back strain in children include:

  • Doing warm up exercises before the start of any physical activity or sports and taking short breaks in between the activity.
  • Ensure that your child uses correct lifting techniques such as squatting to lift a heavy object.
  • Ensure that your child maintains a proper posture while sitting and standing.
  • If your child is overweight or obese, it can strain the back muscles. Hence it is advised that your child lose some weight and maintain a healthy diet.
  • Encourage your child to exercise everyday as it improves spine stability and also prevents extra stress on your child's back.

Congenital Scoliosis

Congenital scoliosis is the lateral curvature of spine that occurs in children whose vertebrae are abnormally formed during their development in the womb. This abnormality develops in the fetus at 4 to 6 weeks of gestation. It is present at birth and may be associated with other health problems such as kidney or bladder diseases.

Some of the common abnormalities that occur during the fetal development include:

  • Incomplete formation of vertebrae - One part of the vertebra is incompletely formed resulting in hemivertebrae. Hemivertebrae creates sharp angle in the spine which causes the spine to curve as the child grows.
  • Failure of separation of vertebrae – During development, initially the spine forms as a single tissue which later divides into segments that develop into the vertebrae. If the separation does not take place it results in partial fusion of two or more vertebrae. This unsegmented bar prevents the spine from growing straight resulting in a spinal curve.
  • Combination of Bars and Hemivertebrae – Unsegmented bar on one side of the spine and hemivertebra on the other result in increased curvature of the spine.
  • Compensatory curves – During this condition your child's spine will create other curves in opposite direction above or below the affected area so as to make up for the scoliosis curve. The vertebrae appear normal in shape.

Congenital scoliosis is usually detected at the time of birth, during examination by your pediatrician because of a slight back abnormality. Other physical signs such as uneven shoulders and waistline, one hip higher than the other, overall appearance of leaning to one side may be seen.

Congenital scoliosis can be detected by some of the diagnostic tests. The common tests include X-ray, to disclose the abnormal vertebra; MRI scan to check for the abnormalities of spinal cord; CT scan to show a detailed image of the spine; and an ultrasound scan to detect any problem that has affected your child's kidneys.

The treatment modalities include non-surgical and surgical methods. Non-surgical treatment consists of observation of the child at 4 to 6 months intervals. If the child has small curves and balanced patterns of malformation, then they can be minor and requires no treatment. Your doctor will observe these changes by X-rays which are taken during the period of rapid growth. Braces or casts are used to control the compensatory curves that are adjacent to the congenital abnormality of vertebra to prevent them from worsening.

Surgical options include:

  • Spinal fusion - It involves removal of the abnormal vertebra and replacement of vertebrae with bone grafts. Two or more vertebrae are fused together with the help of bone grafts and internal fixators such as metal rods, wires, hooks, or screws to form one single bone. These internal fixators help to stabilize the fusion and partially help to straighten the spine. After the surgery your child should wear cast or splint to help in healing process.
  • Hemivertebra removal – In this procedure, the hemivertebrae or abnormally shaped vertebrae are removed and the vertebrae present above and below the hemivertebrae are fused together with the help of metal screws. This procedure helps to straighten the spine and allows the adjacent portion of the spine to grow normally. After the surgery, your child should wear a cast or splint to prevent mobilization and bring about fusion of vertebra.
  • Growth rod insertion – Spinal fusion surgery will not be effective in growing child and may cause impairment of the chest and growth of the lungs. Therefore before going for surgery your doctor will advise insertion of growth rods. One or two rods will be attached to the spine above and below the curve allowing the spine to grow while correcting the curvature. These rods will be kept in place until the child is completely grown after which spinal fusion surgery will be performed.
  • Reconstructive osteotomy and instrumentation – This procedure is done if your child's spine deformity causes breathing problems, pain and risk to the spinal cord, or impairment of the torso shape. In such cases osteotomy is done to remove part of the vertebral column and then followed by insertion of internal fixators such as metal rods, hooks, screws, and wires to restore the balance of the spine.
  • Physical therapy – Your doctor will advise physical therapy after the surgery to help your child's spine grow normally. Physiotherapists will first evaluate your child's posture, muscle strength, and flexibility and will design exercises that help to control pain and improve your child's disability.

Early onset scoliosis

Early-onset scoliosis is the abnormal lateral curvature of spine that occurs in children who are less than 5 years. There is no known cause for a young child to have developed scoliosis at this age.This condition includes children with congenital scoliosis (present at birth) and infantile scoliosis (birth to 3 years). Early onset scoliosis is associated with congenital chest deformities, neuromuscular disorders such as cerebral palsy, muscular disease, and tumor. Early-onset scoliosis generally affects boys more often than girls.

Early onset scoliosis does not cause any pain but it may affect your child's overall appearance.

Your doctor identifies the condition by performing 'Adam's forward bend test'. During this test your child is asked to bend forward andyour doctor looks for the symmetry of the hips and shoulders, and the curve of the spine from the sides, front and the back. X-ray of the spine is taken to measure the degree of severity of curvature. An MRI scan of the entire spine is often recommended to detect any neurologic changes.

Treatment of scoliosis is based on the physician's assessment of the spinal curve, its cause, the age of the child, and the expected growth of the child. Treatment options include non-surgical and surgical treatment. Non-surgical treatment consists of observation, bracing, and casting.

  • Observation: The child is examined every 3 to 4 months to monitor the curve. After the observation if your child's curve is progressing then additional treatments may be required.
  • Bracing: Your doctor may recommend wearing a brace to prevent worsening of the curve.. Braces do not treat the condition but it helps to slow the progression of the curve. However bracing is not effective in neuromuscular scoliosis and congenital scoliosis.
  • Casting: Cast is applied to your child's trunk which controls and corrects the curve by allowing the spine to grow in a normal manner. The cast is changed regularly until the curvature is reduced.

If the conservative treatments do not control the curving, your doctor may suggest surgery. Children's who are at a risk of developing respiratory and cardiac problems because of progression of curve may be recommended for surgery. Surgical modality includes insertion of implants such as growth rods, vertical expandable prosthetic titanium rib prostheses (VEPTR), and spinal staples. These implants help in correcting the curvature without interfering with the growth of the spine.

Growth rods are expandable devices that are attached to the top and base of the spine with the help of internal fixators such as screws and hooks.

Vertical expandable prosthetic titanium rib prostheses are artificial devices that are placed between your child's ribs to move them apart. It straightens the spine and increases the space for lungs and improves pulmonary function.

Spinal stapling is a minimally invasive technique that involves implanting metallic staples across the growth plate of the spine. This procedure modulates growth and corrects the curve without spinal fusion procedure.

General information on Spine

The spine, also called the back bone provides stability, smooth movement, and protects the delicate spinal cord. It is consists of bony segments called vertebrae and fibrous tissue called intervertebral discs. The vertebrae and discs form a column from the head to the pelvis providing symmetry to the body. The spine is divided into 3 major parts, the cervical (neck), thoracic (mid back), and the lumbar (low back).

Sports injuries occur when playing indoor or outdoor sports or while exercising. Some injures occur from accidents and some from inadequate training, or use of protective devices. The most common sports injuries in children are soft-tissue injuries and head injuries. Some injuries are minor such as bruises or sprains while others are permanent injuries. Sports injuries can be acute or chronic, acute injuries occur suddenly when playing or exercising and chronic injuries occur after playing or exercising for long time.

Injury to the spinal cord is caused by a fall or a blow that damage a portion of the spinal cord. Sports associated with spinal cord injury are, football, ice hockey, wrestling, diving in shallow water, skiing, snowboarding, rugby, and cheerleading. A spinal cord injury often causes weakness and loss of sensation at the site of injury.

Sports such as running and weightlifting damage the lumbar spine and football can cause cervical spine injury.

The common symptoms which a child experience when participating in sports include:

  • Low back strain or lumbar sprain is one of the cause of the common cause of low back pain that occur as a result of abnormal stretching or tearing of the muscle fibers and ligaments. Low back sprains or strains can be caused by sudden forceful movement, lifting heavy objects, or intense twisting movements.
  • Upper back pain occurs as a result of sports that involve throwing action or repetitive practice of a certain stroke as in racquet sports.
  • Back pain can be caused by bicycling, weight lifting, body building, golf, running, skiing, swimming, and tennis.

Some of the measures that can prevent sports related back injuries in children include:

  • Enroll children in sports activities conducted in schools that have trained coaches
  • Sufficient stretching of lower and upper back muscles or warm-up exercises before playing sports is necessary to minimize the chance of muscle strains and soft tissue injury
  • Make sure that your child performs warm-up exercise which may help to reduce back strain and makes the back more flexible.
  • Ensure that your child uses properly fitted protective gear for the specific sports activity to reduce the chances of injury
  • Encourage your child to drink at least 8 ounces of energizing fluids every 20 minutes when participating in sports.
  • If your child is hurt, make sure to treat the injury with RICE mode of treatment. Rice is rest, ice, compression, and elevation.

Idiopathic Scoliosis

Scoliosis is a condition where there is abnormal lateral curvature of the spine that makes the spine appear as "S" or "C" curve. It can occur at any age and is seen more frequently in girls than boys. The exact cause of idiopathic scoliosis is unknown in most of the cases.

Types

There are three types of idiopathic scoliosis based on the age of occurrence.

  • Adolescent idiopathic scoliosis: It is the most common type and occurs after the age of 10 years.
  • Infantile idiopathic scoliosis: It occurs in children below 3 years and may be present at birth (congenital) or associated with various syndromes or neurologic disorders.
  • Juvenile idiopathic scoliosis: It is quite uncommon and occurs in children between the ages of 3 and 10 years.

Idiopathic scoliosis does not cause any pain, nerve dysfunction, or breathing problems. Child's overall appearance will be the main concern in parents.

Diagnosis

Your doctor will perform Adam's forward bend test to check if any deformity is present. During this test your child is requested to bend forward. The diagnosis can then be confirmed by measuring the curve with the help of an X-ray of the spine.

Treatment

The treatment of scoliosis is important because if left untreated, the curves measuring more than 50° may cause long term problems such as decrease in lung capacity leading to restrictive lung disease. The kind of treatment needed depends on the degree of the scoliotic curve, the child's age, and the time period remaining for the child to reach skeletal maturity.

Nonsurgical treatment

    • Observation: If there is only a mild curve (less than 20°) or if the child is nearing skeletal maturity, regular check-up for every 3-6 months will be sufficient.
    • Bracing: Bracing is done to prevent the progression of scoliotic curves. It is effective in growing children with a spinal curvature between 25° and 45°.

Surgical Treatment

Surgical treatment is recommended in cases where the curve is greater than 45° and who have reached skeletal maturity having scoliotic curves that exceed 50° to 55°.

Procedure

During the surgery, an implant made up of rods, hooks, screws or wires are used to straighten the spine. Bone grafting may also be done to the operated portion of the spine, to promote healing. Bone grafts can be obtained either from the bone bank or from the patient's own hip region.

Kyphosis

Kyphosis is a condition of abnormal curvature of the spine that causes rounding of the upper back or a hunchback. The thoracic portion of the spine normally has a "C"-shaped curve, but excessive forward curve in the spine leads to kyphosis. Kyphosis may develop as a result of metabolic problems, neuromuscular conditions, spina bifida, osteoporotic fractures, traumatic injuries and slippage of vertebral disc. Kyphosis most commonly affects the thoracic spine, but can involve the cervical and lumbar portions too.

The symptoms of kyphosis may vary based on the severity, ranging from minor change in the shape or appearance of the back to more severe nerve problems and long lasting back pain. There may be weakness in the legs because of the pressure exerted on the spinal cord and nerve from the spinal curvature. Difficulty in breathing may also develop as a result of pressure over the lungs.

Diagnosis

Your doctor will take a brief history which includes family history, history of present symptoms. A careful physical examination will also be done to evaluate the spine movement, strength of the muscles and sensation in order to make a proper diagnosis and also rule out other similar conditions. Some diagnostic tests such as X-rays, MRI scan and CT scan may be ordered to see the structure of the spine and measure the curve. The MRI and CT scan helps in identifying nerve and spinal cord abnormalities.

Treatment Options

Kyphosis has several treatment options ranging from the most conservative methods to surgical correction of the spine. Conservative treatment is most often the first choice and includes medications, exercises, casts and support braces to the spine.

In cases where osteoporosis is the cause of kyphosis, slowing the progression of osteoporosis is recommended with the intake of vitamin D and calcium supplements, hormone replacement therapy, and regular exercises.

Physical Therapy

Physical therapy exercises and rehabilitation program helps to control pain and improve strength, mobility as well as perform daily activities easily. Pain may get relieved even though the kyphosis curve cannot be rectified with the help of exercises. Physical therapy sessions may be scheduled 2-3 times in a week and should be continued for upto six weeks.

Spinal surgery is considered as the last treatment option due to the risks and complications that may occur and is recommended if the benefits of the surgery outweigh the risks. The situations in which surgery for kyphosis may be considered include:

  • Chronic severe pain
  • Progression of the curvature to more severe form
  • Cosmetic reasons

The goal of surgery is to straighten the spine and join the vertebrae to form a solid bone and thus reduce the deformity. Metal screws, plates or rods are used to hold the vertebrae in place during the fusion.

Low back strain

Low back strain or lumbar strain occurs when the muscle or the tendon in the lower back gets stretched or torn. It is caused by lifting heavy objects or overload, sitting or standing for a longer time, direct blow over the area, or sports such as basketball, baseball, or golf that involve sudden twisting of lower back can also lead to strain. The risk factors such as excess low back curvature, weak abdominal muscles, and forwardly tilted pelvis can increase the risk of this injury.

The common symptoms include low back pain that radiates down to the buttocks; inflammation of the soft tissues that surround the muscles; stiffness in the low back; restricted movements; inability to maintain correct posture; muscle spasms; and pain which continues for a longer period.

Your doctor will perform a physical examination and take a brief medical history to diagnose your child's condition. Other additional tests such as X-ray and MRI scan may be required to confirm the injury and provide necessary treatment.

The conservative treatment methods include:

  • Rest: Your child should take complete rest for 1-3 days, as more damage could result from putting pressure on the back. Prolonged bed rest should also be avoided as it leads to loss of muscle strength and makes the muscles stiff which will aggravate pain and discomfort. Hence bed rest should not be continued for more than 48 hours.
  • Ice packs can be applied to the injury which will help to diminish swelling and pain. Ice should be applied over a towel to the affected area for 15-20 minutes four times a day for several days. Never place ice directly over the skin.
  • Braces or belt might be used to support the back while the healing happens.
  • Medications that may be prescribed include nonsteroidal anti-inflammatory drugs to reduce pain and inflammation. Other medicines such as muscle relaxants control muscle spasms. These medicines often cause sedation; therefore, consult your doctor to discuss about the type of muscle relaxants for your child.
  • Your doctor may also suggest a rehabilitation program for your child. It consists of stretching and strengthening exercises, pelvic traction, gentle massages, and ice or heat therapy to improve your child's condition. It helps to control the pain, strengthen the abdominal muscles, and also speeds up the recovery which allows your child to return to the weight-bearing activities.

Some of the preventive measures which can help prevent back strain in children include:

  • Doing warm up exercises before the start of any physical activity or sports and taking short breaks in between the activity.
  • Ensure that your child uses correct lifting techniques such as squatting to lift a heavy object.
  • Ensure that your child maintains a proper posture while sitting and standing.
  • If your child is overweight or obese, it can strain the back muscles. Hence it is advised that your child lose some weight and maintain a healthy diet.
  • Encourage your child to exercise everyday as it improves spine stability and also prevents extra stress on your child's back.

Neuromuscular Disorders

A neuromuscular disease is a disorder that affects the muscles and its nervous control. Neuromuscular disorders are the conditions caused by impaired neuronal activity of the nerves that control the voluntary muscle activities. Children's with neuromuscular disorders often experience muscle pain or weakness, muscle twitching, cramping, numbness and tingling, muscle stiffness causing joint deformities and sometimes difficulty in swallowing and breathing. Neuromuscular disorders in children may be present at the time of birth or may be developed at later stages of life. Abnormality of different components of the lower motor neuron may cause different disorders.

Abnormality of peripheral nerves and muscles

  • Cerebral palsy: Cerebral palsy occurs in infants or in early childhood that affects body movements, balance, posture, and muscle coordination. It is the result of damage to one or more brain parts that controls muscle movements. Babies with cerebral palsy may delay in reaching, developmental stages such as sitting, rolling, crawling, or walking. Treatment includes physical therapy, occupational therapy, use of specialized equipments, and medications to reduce spastic movements and prevent seizures. In some cases surgery may be necessary to cut few nerves from the spinal cord

Abnormalities of the Neuromuscular Junction

  • Myasthenia gravis: Myasthenia gravis is an autoimmune disorder in which your child's immune system makes antibodies to block that signal. It blocks the messages sent by the brain to the muscle. Children's with myasthenia gravis often have trouble in eye and eyelid movement, facial expression and problems with chewing, swallowing and holding up their head. Medications are used to help improve neuromuscular transmission and increase muscle strength. Sometimes, thymectomy, the surgical removal of the thymus gland helps to reduce the symptoms.
  • Congenital myasthenic syndrome (CMS): This condition causes generalized weakness of voluntary muscles and muscle fatigue involving all the muscles controlling mobility, eye movement, swallowing and breathing.

Abnormalities of the Peripheral Nerve

  • Charcot-Marie-Tooth disease: Charcot-Marie-Tooth Disease (CMT) is a genetic nerve disorder that affects your peripheral nerves. The condition is caused by a defect in the genes for proteins that is found in the structure and function of either the peripheral nerve axon or the myelin sheath. Patients with this condition often have muscle weakness and wasting as well as some loss of sensation in the feet, lower legs, hands and forearms and may involve foot deformities.
  • Dejerine-Sottas disease: It is an inherited neurological disorder that causes slow development of early motor milestones. Progression of the disease varies and is often associated with pain, weakness, numbness, and a tingling, prickling or burning sensation in the legs.

Inflammatory Myopathies

Inflammatory myopathies are a group of muscle diseases that involve chronic muscle inflammation and muscle weakness. It is an autoimmune disorder in which the body's white blood cells are attacked by its own immune system. Patients with inflammatory myopathies may have slow but progressive muscle weakness that begins in the proximal muscles.

  • Dermatomyositis: Dermatomyositis is characterized by reddish or purplish skin rashes, hard, painful calcium nodules under the skin, muscle pain and tenderness, and progressive weakness of the muscles of the hips, thighs, and upper arms, upper part of the back, shoulders and neck muscles.
  • Polymyositis: Polymyositis involves inflammation of the skeletal muscles of both sides of the body. Symptoms such as progressive muscle weakness of neck and throat, shoulder, hip and thigh may occur.

Muscular Dystrophies

Muscular dystrophy refers to group of hereditary diseases that weakens the muscles associated with movements. Muscular dystrophy is caused by defective genes. It is caused due to genetic deficiency of the muscle protein called dystrophin. There is no specific treatment for any form of muscular dystrophy but certain medications, physical therapy and assistive devices can slow the progress of some forms of muscular dystrophy. Tendon release surgery is performed to relieve contractures. Muscular dystrophy can occur at infancy or childhood. Major forms of muscular dystrophy may include:

  • Duchenne muscular dystrophy -It is the most common kind of muscular dystrophy affecting only boys, between the ages of 2 to 6. It is characterized by generalized muscle weakness and muscle wasting first affecting the muscles of the hips, pelvic area, thighs and shoulders and eventually involving all voluntary muscles.
  • Becker muscular dystrophy - This form is similar to duchenne muscular dystrophy. It generally occurs between the ages of 2 and 16 but can appear as late as age 25. Children's with this condition show generalized weakness and wasting of the muscles of the hips, pelvic area, thighs and shoulders, enlarged calves and heart complications.
  • Emery-Dreifuss muscular dystrophy - The condition usually appears from the childhood to early teen years and affects only males. It is characterized by weakness and wasting of shoulder, upper arm and shin muscles and may also cause joint deformities and heart complications.
  • Facioscapulohumeral muscular dystrophy -Onset usually occurs in the teens to early adulthood and affects both men and women. The condition causes weakness and wasting of muscles around the eyes and mouth, and of the shoulders, upper arms and lower legs.
  • Myotonic muscular dystrophy - Myotonic muscular dystrophy (MMD) is also called steinert's disease. Muscular dystrophy may begin from birth through adulthood and rarely occurs in the newborns. The condition causes inability to relax the muscles and muscle weakness.
  • Congenital muscular dystrophy -It is a form of muscular dystrophy that is present at birth. The condition is characterized with generalized muscle weakness and joint deformities.

Motor neuron diseases

Spinal muscular atrophy is an inherited disease that attacks the nerve cells called motor neurons characterized by progressive muscle degeneration and weakness.

  • Infantile progressive spinal muscular atrophy: Infantile progressive spinal muscular atrophy (SMA Type1) is the most severe form and the infants with this type may have poor muscle tone, progressive weakness, lack of head control, trouble swallowing and sucking, and breathing problems.
  • Intermediate spinal muscular atrophy: Children's with intermediate spinal muscular atrophy (SMA type 2) may have weakness in arms, legs, upper and lower torso, and often have joint deformities.
  • Juvenile spinal muscular atrophy (SMA type 3): Juvenile spinal muscular atrophy (SMA type 3) is the least severe form of the disease and is characterized by weakness in leg, hip, shoulder, arm and respiratory muscles.

Other congenital vertebral anomalies

The spine is made up of group of bones called vertebrae. Vertebral anomalies are defects or malformations of the spine that are present during birth. These defects are categorized into malformation, disruption, and deformation.

Malformation is the failure in the formation of the spine causing the vertebra to be absent completely or improperly formed (hemi or wedge vertebra). If two hemivertebra occur at the same level, it may lead to butterfly vertebra and if the vertebra fails to differentiate it may lead to block or fused vertebra. Disruption is the defect or damage of the spine that formed normally during the embryo development. Deformation is abnormal shape of a vertebra or the entire spine during the embryonic development.

There are various vertebral anomalies of which some of the commonly occurring anomalies include:

  • Congenital scoliosis – It is the sideway curving of spine that occurs in children whose vertebrae are abnormally formed during their development in the womb. This abnormality develops in the fetus at 4 to 6 weeks of gestation. It may be present at birth or may be present along with kidney or bladder disease.
  • Congenital kyphosis – It is a condition which occurs as a result of failure of segmentation or defect in the formation of the vertebrae. Defect of segmentation causes forward bending of the spine giving hunchback appearance. If this condition is left untreated, it leads to paraplegia, a condition where there is loss of movement and sensation in the lower part of the body including both legs.
  • Congenital lordosis – This condition causes inward curving of the spine which makes the child difficult to sit, stand, or walk. If this condition occurs in the upper or (thoracic) region of spine, the distance between spine and the chest is reduced and your child may have respiratory problems. If lordosis occurs in the lower back region (lumbar), the spine may approach the abdominal wall.
  • Sacral and Lumbosacral Agenesis – It is a rare congenital condition, occurs when there is failure of formation of sacrum (lower spine). Some of the risk factors such as maternal diabetes and deficiency of mother's diet can cause sacral agenesis. In severe cases sacral agenesis leads to lumbosacral agenesis. Lumbosacral agenesis is characterized by partial or total absence of lumbar vertebrae and lower thoracic vertebrae.
  • Basilar impression – It is a deformity of the bones at the base of the skull. It occurs when the floor of the skull is pressed by the upper portion of the cervical spine. This condition may cause neurologic damage from an injury and deterioration of cerebrospinal fluid flow. Basilar impression is further divided into primary and secondary. Primary basilar impression is associated with other vertebral defects such as Klippel-Feil syndrome, odontoid anomalies, and atlas hypoplasia. Secondary basilar impression occurs when the osseus structures present at the base of the skull becomes soft.
  • Occipitocervical synostosis – It is a condition characterized by partial or complete union of the 1st cervical vertebra atlas and the base of the occiput of the skull. This process is known as occipitalization of the atlas. Children usually develop the symptoms after trauma or some of the children do not get any symptoms throughout their life. The common symptoms include weakness and lack of coordination in the lower limbs and sometimes in the upper limbs.

Spina Bifida

Spina bifida is the most common birth defect which is known as neural tube defect that affects the central nervous system (brain and spinal cord). Most commonly it occurs in the first month of pregnancy because of incomplete development of the spinal cord or its coverings.

The 3 variants of spin bifida have been identified and they are:

  • Spina bifida occulta: It is the mildest and harmless form of spina bifida. The spinal cord and the nerves are normal but there may be a small defect or gap between the vertebra and does not cause any health problems.
  • Meningocele: It occurs when the membranes of the spinal cord enlarge and protrude creating a cyst from the spinal opening. The defect is invisible through the skin and causes no problems.
  • Myelomeningocele: This is the most severe form of spina bifida. It occurs when the spinal cord is exposed through the opening in the spine resulting in neurological problems. Children with this condition may have partial or complete paralysis of the parts of the body that are below the spinal opening. Most infants born with this condition also have hydrocephalus (accumulation of fluid in and around the brain), problems with bowel and bladder control, and other learning disabilities.

Children with spina bifida occulta exhibit no physical signs of the condition. In some cases, defects are recognized as a small dimple, birthmark, or a hairy patch at the site of the defect. In meningocele and myelomeningocele, fluid filled sac is visible on the spine. In most severe cases of myelomeningocele the nerves and the tissues from the spinal cord may get exposed.
Spina bifida affecting spinal cord may cause problems such as inability to control bowel movements, urinary incontinence, lack of sensation in the legs and feet, partial or complete paralysis of the legs, and less often, in the arms.

The exact cause for spina bifida remains unknown however certain factors may contribute to spina bifida and include genetic factors, environmental factors such as nutrition and radiation, and folic acid deficiency during early pregnancy.

Most cases of spina bifida can be diagnosed before birth with the help of prenatal tests such as alpha-fetoprotein (AFP) test, ultrasound, and amniocentesis. Postnatal tests include X- rays, CT scan of skull, and MRI and ultrasonography of the spinal area.
Treatment for spina bifida depends on clinical symptoms and most often includes physical therapy, antibiotics to prevent infection, and teaching the child bowel and bladder habits. Surgery is usually recommended after birth at an early age and they include spina bifida repair and ventriculoperitoneal shunting.

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