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Bones / Orthopedics

What to know about aplasia

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Aplasia is a disorder in which there is no development of an organ, limb, or other body part. Aplasia is obvious at birth in most cases. However, certain types of aplasia may sometimes not be apparent until later in life.

In this article, we look at the causes of various forms of aplasia and their symptoms. We also clarify how it varies, such as hypoplasia, atrophy, agenesis, and dysplasia, from similar conditions.

Types of aplasia

aplasia child
Image credit: Jill Lehmann Photography/Getty Images

There are several forms of this condition, as aplasia can impact any organ or tissue. Some examples include:

Pure Red Cell Aplasia Acquired (PRCA)

Red blood cells begin in the bone marrow as cells that are called erythroblasts. These later develop into mature red blood cells.

People with PRCA do not develop erythroblasts. As a result, they may have aplastic anemia, which is a condition in which the blood cells that the body needs are not created by the bone marrow.

Symptoms of PRCA, according to the National Center for Advancing Translational Sciences, include:

This disorder has different causes, including autoimmune diseases, thymomas, cancers, and viral infections. The origin, however, is unclear in some cases.

Aplasia cutis congenita

Aplasia cutis congenita is a rare disease in which newborns have skin that is missing from parts of their bodies. The underlying structures under the skin, such as the bone, may also not be present in some cases.

The scalp is most often affected by this congenital disorder. However, every part of the body may be affected by it. A thin transparent membrane over the top will be present in the affected areas. It is possible to see the internal organs of the baby through the membrane in certain instances.

Aplasia cutis congenita may be due to a mutation of certain genes.

Radial aplasia

The radius is a bone which connects the humerus bone to the wrist in the upper arm. Without the radius bone, individuals with radial aplasia are born.

The forearm is shorter than it needs to be without the radial bone. In addition, toward the thumb side of the forearm, the hand and wrist turn inward.

Although there are many theorie as to what causes radial aplasia, to ascertain the exact cause of this disease, further study is required.

Germ cell aplasia

Within the testes, the seminiferous tubules are where spermatogenesis, or sperm production, takes place. Two cell types are present in the tubules: spermatogenic cells and Sertoli cells.

Spermatogenic cells aid with the spermatogenesis process. The provision of nutrition to the sperm is one of the main functions of Sertoli cells.

Sertoli cells are present in people with germ cell aplasia but have no spermatogenic cells. This form of aplasia can also be referred to by medical professionals as Sertoli Cell-only syndrome or Del Castillo syndrome.

No physical signs are produced by this form of aplasia. Infertility is the principal indication that a person has aplasia of germ cells.

For this reason, before they try to conceive through penile-vaginal intercourse, a person can not know that they are experiencing this disorder.

If a doctor suspects aplasia of germ cells, a biopsy would usually be conducted using tissue from the person’s studies.

Thymic aplasia

In the immune system, the thymus is a gland that plays an significant role. The thymus allows young T cells to mature and specialize, even though it only functions before puberty.

T cells, such as bacteria , viruses, and cancers, recognize and attack dangerous microbes and cells. However, only one form of microbe or cell is fought off by each T cell.

Alongside DiGeorge syndrome, Thymic aplasia occurs. A small segment of a chromosome is absent in people with this genetic disorder. A baby without a thymus is at high risk of contracting life threatening infections.

Aplasia of the lung

A baby can, in rare cases, be born without one of the lungs.

The review of a baby born without a lung is detailed in a 2015 case report. The study authors note that the baby had breathing problems and needed ventilator treatment shortly after birth.

In an antenatal scan, this type of aplasia can be difficult to recognise. The authors of the case study, however, emphasize that the baby was healthy at the time of writing and met all anticipated growth milestones.

Similar conditions

Agenesis, aplasia, and hypoplasia are very similar concepts that all refer to incomplete development at different stages. They all result in organs or tissues being either incomplete or undersized.

Agenesis

The terms agenesis and aplasia can be used by certain individuals interchangeably.

However, to explain the complete absence of an organ and aplasia, researchers have used agenesis to refer to an organ’s inability to grow beyond the earliest stage.

Hypoplasia

Hypoplasia refers to the underdevelopment of body parts or incomplete development.

In certain cases, aplasia-related disorders can also come under the hypoplasia category. An individual with radial aplasia, for example, does not miss the entire radius bone and instead have a shorter than normal radius bone.

Atrophy

Atrophy is another related term. It refers to the partial or complete wasting of a cell, organ, or tissue following normal, matured growth.

Atrophy typically occurs as a decrease in size or characteristics. It varies from hypoplasia, where the decrease in size is due to the failure of a cell, organ, or tissue to reach normal maturity.

Difference between aplasia and dysplasia

Dysplasia is when cells from tissues or organs grow abnormally, according to the National Cancer Institute. Where the organ or tissue does not grow beyond the earliest stage, it is different from aplasia,

In any part of the body, dysplasia can occur and may affect both children and adults.

Before birth, a doctor may diagnose dysplasia in a developing fetus, and when the child develops, it can trigger developmental issues.

Dysplasia usually refers to the irregular development of tissues or cells in adults. These cells can be precancerous and create tumors if they continue to grow.

There are several forms of dysplasia, and there is still no recognition of the causes of each type.

Sometimes, to describe aplasia or dysplasia that affects a particular area of the body, medical professionals may use the same term.

They may, for example, refer to both radial aplasia and radial dysplasia as the hand of the radial club. Sometimes they can also use this term to refer to radius hypoplasia.

Depending on the particular cause, doctors classify the radial club hand into four distinct forms.

This classification may lead to confusion as to whether the words aplasia and dysplasia are sufficient to be used interchangeably.

However, people should not see the two terms as equivalent. Aplasia and dysplasia are distinct, but they may produce similar results in the same region of the body and cause conditions with a common name.

Summary

Aplasia tends to occur when an organ, limb, or body part does not develop during fetal development.

At birth, several forms of aplasia would be noticeable, but others may not become noticeable until later in life.

Bones / Orthopedics

Things to understand about the shoulder

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The shoulder is a complex upper-body structure that connects the arms to the torso. It is made up of a number of parts that work together to offer stability and a wide range of motion.

The shoulder is a huge and complicated ball-and-socket joint with several bones, muscles, tendons, and ligaments. These structures work together to construct and support this very flexible joint, which allows the arms to move freely. However, because of this mobility, the shoulder can be damaged by overuse, instability, or injury.

The anatomy, function, and structures of the shoulder will be discussed in this article.

Overview

Shoulder

Because of the variety of structures that make up the shoulder, it is a complex part of the body that can move freely. The shoulder includes the body’s most mobile joint, allowing for a high range of motion but at the sacrifice of stability. It’s prone to getting hurt.

Three primary bones meet at the shoulder to form a 90-degree angle. The pectoral girdle is made up of two of these bones: the clavicle and scapula. The collarbone and shoulder blade are the common names for these bones. The humerus, which is the biggest bone in the arm, is the third bone.

The glenohumeral, acromioclavicular, and sternoclavicular joints are formed by the intersection of these bones and the sternum, or chest bone. The great range of motion of the shoulder is due to these joints.

The joints are subsequently surrounded by cartilage, ligaments, muscles, and tendons, which unite the bones and provide stability. Muscles also enable movement.

Anatomy

Shoulder anatomy

Functions

The primary purpose of the shoulder is to offer a wide range of motion for the arms. People who can raise, lower, and rotate their arms can accomplish a variety of actions, including tossing and reaching, as well as athletic movements like swimming.

The shoulder’s bones and joints

The shoulder is made up of three bones. These are the following:

  • The clavicle: This bone, also called the collarbone, connects the arm to the chest and is located in front of the scapula. It is connected to the arm, the neck, and the chest through a number of muscles.
  • The scapula: The shoulder blade is also known as the scapula. It’s triangular in shape. It primarily adheres to the body through muscle and “floats” off the rear of the chest. The acromion, a bony component of the scapula, connects it to the clavicle. On the scapula, the glenoid is a shallow socket.
  • The humerus: The humerus is the bone in the upper arm. Between the elbow and the shoulder is a lengthy bone called the humerus. At the top of the arm, the humerus bears a spherical part that acts as a “ball” for the scapula’s “socket.”

The shoulder is made up of three joints. These are some of them:

  • The glenohumeral joint: A ball-and-socket joint is what this joint is. It is the joint that links the humerus to the scapula. It is the body’s most movable joint. The shoulder can move in various planes, including arm rotation and moving the arm up and away from the body, thanks to the joint.
  • The acromioclavicular joint: The clavicle is joined to the scapula by this. The clavicle joins to the scapula by a bone component known as the acromion. The shoulder is stabilized by this joint, which also aids movement such as elevating the shoulders.
  • The sternoclavicular joint: The clavicle is connected to the sternum by this. The sternum is the flat bone in the center of the chest, often known as the breastbone. The clavicles can move thanks to the joint.

Muscles of the shoulder

Extrinsic and intrinsic muscles make up the shoulder. Extrinsic muscles come from the torso and attach to the shoulder’s bones, whereas intrinsic muscles come from the scapula or clavicle and attach to the humerus.

The following muscles make up the intrinsic muscles of the shoulder:

  • The deltoid: The deltoid is a triangular-shaped muscle on the outside of the shoulder. It connects the clavicle to the scapula. The deltoid muscle permits you to move your arm forwards, backwards, sideways, and away from your body. It also helps to keep the shoulder stable while carrying and lifting.
  • Teres major: The scapula gives rise to this muscle, which joins to the humerus. Internal rotation of the arm is possible because to Teres major.
  • Supraspinatus: This muscle originates from the scapula and attaches to the humerus. It helps to support the glenohumeral joint and allows the arm to move out from the body.
  • Infraspinatus: The scapula gives rise to this muscle, which joins to the humerus. It turns the arm externally and stabilizes the glenohumeral joint.
  • Teres minor: The teres minor stems from the scapula and connects to the humerus. It rotates the arm laterally while also stabilizing the glenohumeral joint.
  • Subscapularis: The scapula gives rise to this muscle, which joins to the humerus. It permits the arm to rotate towards the body while also stabilizing the glenohumeral joint.

The rotator cuff muscles are the supraspinatus, infraspinatus, teres minor, and subscapularis muscles. All of them come from the scapula and connect to the humerus. These muscles work together to raise and rotate the arm.

The following muscles make up the extrinsic muscles of the shoulder:

  • The trapezius: The trapezius is a muscle that runs from the base of the head to the clavicle and scapula. The scapula is raised.
  • Latissimus dorsi: The humerus bone is attached to this muscle, which originates in the lower spine. It assists with pull-ups and rowing exercises by bringing the arm backwards and towards the torso.
  • Levator scapulae: This is a long, narrow muscle that aids in scapula elevation. It also aids in glenoid cavity rotation, spine stabilization, and neck extension and lateral flexion.
  • Rhomboid major and rhomboid minor: The rhomboid muscles help rotate the glenoid cavity by stabilizing the scapula and maintaining it in place.

Common conditions

While the shoulder is incredibly mobile, its suppleness leaves it vulnerable to injury and instability. These injuries can limit your range of motion and cause shoulder pain. The following are some of the most prevalent shoulder ailments:

Rotator cuff injuries

Trauma to any of the muscles and tendons that make up the rotator cuff is referred to as a rotator cuff injury. The following are some of the most common rotator cuff issues:

  • Tears: When a tendon is torn, it no longer fully adheres to the bone, which is a common injury. Injury and age-related deterioration are the most common causes of rotator cuff tears. While treatment varies depending on the severity of the condition, it usually include rest, pain medication, and rehabilitation activities. Surgery may be required in more severe situations.
  • Bursitis: The bursa, which are fluid-filled sacs that cushion and protect tissues by decreasing friction, is inflamed. The bursa can be irritated and inflamed by infections or too much friction from repetitive movements or injuries. Antibiotics, rest, corticosteroid injections, and surgery may be used as treatment options in more severe cases.
  • Tendinitis: This is an inflammation of the tendons that might cause it difficult to lift the arms. It usually happens as a result of tendons irritation or damage caused by sports or repetitive overhead movements. It’s also known as a shoulder impingement by certain people. Rest, physical therapy, and injections are common treatments, but if these don’t work, surgery may be required.

Arthritis

Arthritis is a condition in which the joints become inflamed. The cartilage in people with arthritis is destroyed, and the joint no longer has a smooth surface.

Arthritis can cause pain, decreased range of motion, and a clicking sounds in the shoulder joints, especially the acromioclavicular and glenohumeral joints.

The following are examples of arthritis that can affect the shoulder:

  • rheumatoid arthritis
  • avascular necrosis
  • osteoarthritis
  • rotator cuff tear arthropathy
  • post-traumatic arthritis

Treatment will vary depending on the type and severity of the arthritis, but it will usually start with nonsurgical options including rest, physical therapy, and pain relievers. When these methods fail or the pain becomes incapacitating, a doctor may recommend surgery.

Fracture

Broken bones are also known as fractures. As a result, a shoulder fracture develops when the scapula, clavicle, or head of the humerus breaks. Fractures can occur as a result of:

  • car accidents
  • collisions
  • falls

Shoulder fractures can often be treated without surgery by a doctor. This usually entails wearing a sling to immobilize the shoulder and allowing it to heal. However, if the bone is entirely out of place, surgery may be required. This usually entails placing plates, screws, or rods inside the bone to stabilize the fracture.

Dislocation

When the humerus comes partially or completely out of the glenoid, it is referred to as a shoulder dislocation. The shoulder is the most often displaced joint due to its mobility, with forward, or anterior, dislocations accounting for roughly 97 percent of all occurrences.

A doctor will most likely conduct a closed reduction to repair a shoulder dislocation. This is a process in which the humerus is reinserted into the joint socket. After that, a doctor may recommend resting or immobilizing the shoulder before beginning rehabilitation exercises once the pain and swelling have subsided.

A dislocation can sometimes be so severe that it necessitates surgery. If the shoulder becomes unstable following a dislocation, surgery may be required to prevent recurrent dislocations.

Shoulder health advice

The following steps can be taken to ensure that a person’s shoulder is healthy and has a decent range of motion:

  • before exercising, make sure you extend your shoulder muscles properly
  • when working or playing sports, avoid overusing the shoulder muscles
  • using an exercise program to strengthen the shoulder muscles
  • shoulder pain should not be ignored, and if the pain persists, a doctor should be consulted
  • attempting to stay away from activities that could result in a fall or accident

Conclusion

The shoulder is a complex structure with numerous bones, muscles, and tendons. These components come together to form a movable joint that allows the arms to move freely.

The shoulder, however, is prone to instability and injury since it is a mobile joint that many people utilize regularly. Rotator cuff injuries, shoulder arthritis, fractures, and dislocations can all cause pain and interfere with shoulder function. Treatment, rest, stretching, and exercising as soon as possible might assist to strengthen the shoulder and speed up healing.

Sources:

  • https://www.ncbi.nlm.nih.gov/books/NBK459125/
  • https://www.assh.org/handcare/blog/anatomy-101-shoulder-bones
  • https://www.training.seer.cancer.gov/anatomy/skeletal/divisions/appendicular.html
  • https://orthoinfo.aaos.org/en/diseases–conditions/arthritis-of-the-shoulder
  • https://www.assh.org/handcare/safety/bones
  • https://www.niams.nih.gov/health-topics/bursitis/advanced#tab-overview
  • https://www.ncbi.nlm.nih.gov/books/NBK537018/
  • https://www.ncbi.nlm.nih.gov/books/NBK537258/
  • https://www.medicalnewstoday.com/articles/parts-of-the-shoulder
  • https://www.ncbi.nlm.nih.gov/books/NBK536933/
  • https://www.training.seer.cancer.gov/anatomy/muscular/groups/upper.html
  • https://orthoinfo.aaos.org/en/recovery/rotator-cuff-and-shoulder-conditioning-program/
  • https://medlineplus.gov/rotatorcuffinjuries.html
  • https://orthoinfo.aaos.org/en/diseases–conditions/rotator-cuff-tears/
  • https://ota.org/for-patients/find-info-body-part/3832
  • https://orthoinfo.aaos.org/en/diseases–conditions/shoulder-impingementrotator-cuff-tendinitis/
  • https://orthoinfo.aaos.org/en/diseases–conditions/shoulder-pain-and-common-shoulder-problems/
  • https://www.ncbi.nlm.nih.gov/books/NBK499858/

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Bones / Orthopedics

Secondary osteoarthritis: What is it?

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Osteoarthritis (OA) is a type of arthritis in which joint cartilage breaks down. There is no known cause of primary OA. Secondary OA, on the other hand, develops as a result of a pre-existing medical condition, joint injury, or abnormality.

Although primary and secondary OA are the same condition, they are caused by different causes.

OA can affect any joint in the body, causing pain, stiffness, and a restricted range of motion.

The symptoms and causes of secondary OA are discussed in this article. We also talk about treatment choices and the outlook for people who have the condition.

What is osteoarthritis (OA)?

Osteoarthritis (OA)

OA is the most common type of arthritis, according to the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and it typically affects elderly people.

OA is a joint condition in which the cartilage in the joints breaks down. It can occur in every joint of the body, however it most commonly affects the:

  • lower back
  • knees
  • fingers
  • hips
  • neck

According to the NIAMS, OA symptoms can range from mild to severe and may include:

  • limited range of motion in the affected joint
  • a loose or unstable-feeling joint
  • swelling around the joint, which may worsen after activities that require using that joint
  • joint pain, which may get worse at night
  • stiff joints, which may occur after periods of rest or after sleeping

Primary vs. secondary OA

People with OA might have either primary or secondary OA. The symptoms of these illnesses are the same, but the causes are not.

There is no known cause of primary OA. Secondary OA, on the other hand, comes as a result of an existing medical condition, abnormalities, infection, or injury.

Causes

Secondary OA can be caused by a variety of causes, including:

  • hemoglobinopathies, which are conditions affecting red blood cells
  • Ehlers-Danlos syndrome
  • Marfan syndrome
  • inflammatory arthritis
  • an existing joint abnormality
  • injury or trauma to the joint
  • metabolic disorders
  • a joint condition present from birth
  • infectious arthritis
  • osteoporosis
  • osteochondritis dissecans, where bone underneath joint cartilage dies due to a lack of blood supply
  • Paget’s disease
  • avascular necrosis, where bone tissue dies from a lack of blood supply

Treatment

Secondary OA treatment seeks to alleviate pain, reduce stiffness, and improve range of motion and joint function. It may also assist to keep the condition from worsening.

Among the treatment options are:

Exercise

According to research, combining aerobic and resistance activities can help reduce pain and enhance physical function.

Exercise can also assist to build muscle, enhance endurance, and increase flexibility. An OA workout regimen may include:

  • Stretching exercises can help you enhance your range of motion.
  • Strengthening muscles using weights or exercise bands, which then aids to support joints.
  • Exercising to increase balance and agility, which can assist people maintain daily activities
  • Exercise in water to alleviate joint tension, or engage in low-impact exercises such as walking, tai chi, or cycling.

People must avoid any activities that aggravate their symptoms or put additional strain on their joints.

Getting rid of excess weight

Losing additional weight can help alleviate joint tension.

In people with knee OA, decreasing one pound (lb) of body weight can ease four pounds of pressure on the knees.

Losing excess weight may also be beneficial:

  • slow down progression of OA and cartilage breakdown
  • decrease inflammation
  • relieve pain and improve physical function

Joint support

Braces, splints, and walking canes can assist stabilize joints and remove excess pressure.

Furthermore, if joints are misaligned, remedial equipment such as orthotics or knee braces may be beneficial.

Medications

Certain drugs may aid with pain relief and inflammation reduction. These could include:

  • Anti-inflammatory and pain relievers taken orally
  • To reduce pain, administer topical ointments to affected joints.
  • Corticosteroids are pain relievers that a doctor may inject into the joint.
  • Hyaluronic acid injections into the knee to promote joint lubrication are used to treat knee OA.
  • Long-term pain relief with oral selective serotonin and norepinephrine reuptake inhibitors.

Surgery

If other therapies are ineffective, a person is suffering from serious joint degeneration, or OA is interfering with a person’s daily life, surgery may be required.

An osteotomy is a surgical procedure in which a physician removes a portion of bone near the injured joint in order to redistribute weight away from that joint.

A partial or whole joint replacement is another surgical option for OA, depending on the level of joint deterioration. This entails removing a portion or all of the joint and replacing it with a synthetic joint composed of plastic, ceramic, or metal.

Risk factors

Secondary OA risk factors include:

  • having an abnormal joint structure or unusually aligned bones
  • having muscle weakness
  • being female
  • having a family member with OA
  • being over the age of 50 years
  • having had a bone fracture, ligament or cartilage tear, or other joint injury
  • overly using the same joints, which may happen as a result of certain occupations or sports
  • having obesity, as excess body weight can put extra stress on joints and increase inflammation

Outlook

The prognosis for OA varies from person to person and is determined by which joints are affected, the severity of symptoms, and level of physical function.

OA may be minor in some people, and they may be able to effectively manage their symptoms with treatment.

In other circumstances, people with OA may suffer from significant disability. For some people with severe OA, joint replacement surgery may be the best long-term option.

Conclusion

OA is a joint condition in which joint cartilage degrades, resulting in pain, stiffness, and reduced range of motion in the joints.

Secondary OA is caused by an existing condition, injury, or infection, whereas primary OA has no clear cause.

Treatment may help relieve pain, reduce inflammation, and prevent the condition from progressing.

Exercising, losing excess weight, using support equipment, and taking drugs are all possible treatment strategies. In some circumstances, surgery may be required to relieve joint stress or to replace a damaged joint.

Sources:

  • https://www.niams.nih.gov/health-topics/osteoarthritis/advanced
  • https://www.arthritis.org/diseases/osteoarthritis
  • https://www.medicalnewstoday.com/articles/what-is-secondary-osteoarthritis
  • https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthritis/osteoarthritis
  • https://www.ncbi.nlm.nih.gov/books/NBK482326/
  • https://www.arthritis.org/health-wellness/healthy-living/nutrition/weight-loss/weight-loss-benefits-for-arthritis

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Bones / Orthopedics

What you should know about babies born with spina bifida

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Spina bifida is a spine condition that is usually detected at birth by doctors. It is a neural tube abnormality that appears early in the development of a fetus and can occur anywhere along the spine.

The backbone, which normally protects the spine, does not form and seal properly in spina bifida. As a result, people with spina bifida frequently suffer from spinal cord and nerve damage.

Every year, around 1,500 babies in the United States are born with spina bifida. Although specialists are unaware of the exact causes of the condition, they advise females of childbearing age to ingest folic acid to lower the chance of neural tube defects.

This page discusses baby spine issues, such as spina bifida. It also discusses symptoms, diagnosis, and treatment options.

Infant spine problems

infant

The spine is made up of tiny bones called vertebrae that are piled on top of each other with discs in between. A healthy spine should have moderate bends from front to back to help absorb movement stress, but it should run straight down the center of the back.

Infants may have a variety of spine disorders that cause their back to twist or rotate. These are some examples:

  • lordosis, an excessive inward curve of the spine
  • spina bifida
  • scoliosis, an abnormal sideways spinal curve
  • kyphosis, an abnormal forward bending of the spine

The most frequent crippling congenital condition is spina bifida, which means “divided spine.” Doctors categorize the condition as a form of neural tube defect (NTD), in which the neural tube of a growing embryo does not develop or close as predicted. This causes nerve and spinal cord damage.

These complications appear throughout the first 28 days of pregnancy and may occur before a woman realizes she is pregnant.

Spina bifida is commonly referred to as the “snowflake condition” because no two cases are alike. Depending on the size and location of the incision, the condition might range from minor to severe.

Spina bifida is classified into three types:

  • Myelomeningocele: This is the most common and severe type of spina bifida. It is also known as spina bifida cystica. Some vertebrae do not form normally in babies with this condition and do not properly encase the spinal cord. As a result, some of the spinal cord, nerves, spinal fluid, and other tissues push through the spine, forming a sac on the baby’s back. An individual may suffer from moderate to severe handicap as a result of nerve involvement.
  • Meningocele: The baby with this kind of spina bifida has a bag bulging from the back. However, because the sac does not contain parts of the spinal cord and there is minimal nerve involvement, the individual may only endure modest problems.
  • Spina bifida occulta:  This is the least severe kind of spina bifida. Because there is merely a gap in the spine and no opening in the back, a person may be unaware that they have this problem. Babies that have spina bifida occulta may have a birthmark, dimple, or hair patch at the base of their spine.

Causes

Doctors are unsure what causes spina bifida. However, it appears to run in families, implying that genetics have a role in the condition.

Taking folic acid when pregnant lowers the chances of having a child with spina bifida. As a result, people who may get pregnant should take this B vitamin on a daily basis. Females of reproductive age should take 400 micrograms (mcg) of folic acid daily, according to the Centers for Disease Control and Prevention (CDC).

Symptoms

Spina bifida symptoms vary depending on the severity of the condition and may differ between individuals.

Myelomeningocele symptoms include:

  • bowel and bladder issues
  • paralysis
  • seizures
  • curved spine
  • open spine
  • a skin-covered sac protruding from the back
  • hydrocephalus
  • learning disabilities
  • physical disabilities

A person with a meningocele may have no symptoms other than the sac protruding through their back.

Individuals with spina bifida occulta may be unaware of their condition until late childhood or adulthood. It may not cause any symptoms and, in most cases, does not cause in disability.

Diagnosis

To detect spina bifida before birth, doctors can perform one of three tests:

  • A blood test: During weeks 16–18 of pregnancy, doctors can obtain a blood sample from a woman. The level of alpha-fetoprotein (AFP) in the sample is then measured in a laboratory. AFP is a protein produced by the unborn baby and passed to the mother. If the fetus develops spina bifida, around 80% of pregnant people have high levels of AFP.
  • Ultrasound: An ultrasound, often known as a sonogram, is a type of imaging that takes photos of the fetus in the uterus. Ultrasound is widely used by doctors to detect indications of spina bifida, such as an open spine.
  • Amniocentesis: This test involves extracting a little amount of fluid from the uterus using a fine needle. Doctors can examine the sample for AFP levels, which may suggest that the fetus has spina bifida.

Treatment

Spina bifida has no known cure. There are, however, various therapeutic options available for infants with spina bifida.

  • Myelomeningocele: In the case of open spina bifida, a surgeon can seal the hole before or after the infant is born.
  • Hydrocephalus:  If a newborn has hydrocephalus, or water on the brain, a surgeon can insert a tube to drain the fluid. This tube, also known as a shunt, aids in the relief of head pressure and related symptoms.
  • Tethered spinal cord:  The spinal cord adheres to the spinal canal in this condition, limiting proper movement. The spinal cord extends unnaturally as the kid grows. A surgeon can untether or detach the spinal cord from the surrounding tissue, allowing the patient to resume normal movement. Doctors anticipate that up to 50% of children who have surgery for spina bifida shortly after birth will need surgery to untether their spinal cord later on.
  • Catheterization:  Individuals with open spina bifida may have nerve damage that prohibits them from having normal bladder function. A doctor may advise the child’s carers to catheterize the bladder and enable it to drain completely. This is accomplished by putting a small plastic tube known as a catheter into the bladder many times per day. Children with spina bifida must be evaluated on a regular basis by a urologist, a doctor who specializes in the urinary tract.

Furthermore, many people with spina bifida require mobility aids such as braces, crutches, or wheelchairs. Doctors may also advise patients to continue receiving physiotherapy.

Outlook

The outlook of an infant with spina bifida is determined by the severity of their spinal abnormalities. For example, if an infant has full paralysis, hydrocephalus, and other congenital defects, his or her outlook may be bleak.

However, with proper care and medical attention, most infants with spina bifida survive into adulthood.

Conclusion

Spina bifida is one of various baby spine disorders that can occur during the development of a fetus in the uterus. There are three major varieties, with varying degrees of severity. Myelomeningocele is the most dangerous condition, in which a fluid-filled sac containing the spinal cord and other tissues protrudes through the infant’s back.

Meningocele is characterized by the presence of a sac but the absence of the spinal cord or nerves, and the patient may not feel severe symptoms. Spina bifida occulta is the mildest form of spina bifida, in which no sac protrudes through the back yet there is a breach in the spine. Individuals with this type of spina bifida may be unaware of their condition until they reach maturity.

Spina bifida has no cure because the nerve damage is irreversible. Surgery and other therapies, on the other hand, can help people manage their disability and mobility issues.

Sources:

  • https://www.cdc.gov/ncbddd/spinabifida/data.html
  • https://www.cdc.gov/ncbddd/folicacid/about.html
  • https://medlineplus.gov/spinabifida.html#cat_78
  • https://www.medicalnewstoday.com/articles/spina-bifida-in-infants-and-treatment-options
  • https://www.ninds.nih.gov/Disorders/All-Disorders/Spina-Bifida-Information-Page#
  • https://www.spinabifidaassociation.org/resource/occulta/
  • https://orthoinfo.aaos.org/en/diseases–conditions/spinal-deformity-in-children-with-myelomeningocele/
  • https://www.aans.org/en/Patients/Neurosurgical-Conditions-and-Treatments/Tethered-Spinal-Cord-Syndrome
  • https://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/treatment
  • https://www.cdc.gov/ncbddd/spinabifida/facts.html
  • https://www.spinabifidaassociation.org/what-is-spina-bifida-2/

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