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Ailmemts & Remedies

Kyphosis

Alternative Names: Scheuermann’s disease; Roundback; Hunchback; Postural kyphosis

Definition:
Kyphosis is a curving of the spine that causes a bowing or rounding of the back, which leads to a hunchback or slouching posture.

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Some rounding is normal, but the term “kyphosis” usually refers to an exaggerated rounding, more than 50 degrees. This deformity is also called round back or hunchback.

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With kyphosis, your spine may look normal, or you may develop a hump. Kyphosis can occur as a result of developmental problems; degenerative diseases, such as arthritis of the spine; osteoporosis with compression fractures of the vertebrae; or trauma to the spine. It can affect all ages.

In the sense of a deformity, it is the pathological curving of the spine, where parts of the spinal column lose some or all of their lordotic profile. This causes a bowing of the back, seen as a slouching back and breathing difficulties. Severe cases can cause great discomfort and even lead to death.

Causes:

Our spine (vertebral column) is composed of bones (vertebrae), which are held together by tough, fibrous bands (ligaments). The vertebral column consists of seven neck (cervical) vertebrae, 12 middle back (thoracic) vertebrae and five lower back (lumbar) vertebrae. Lumbar vertebrae are the largest, and they carry most of your body’s weight. The sacrum, containing five fused vertebrae, is below the lumbar vertebrae. The last three tiny vertebrae, also fused together, are called the tailbone (coccyx).

Kyphosis is a forward rounding of the vertebrae in your thoracic spine. The vertebrae in your thoracic spine connect to your ribs.

Causes of kyphosis depend on the different types of kyphosis.
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Types of kyphosis in children and adolescents
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For children or adolescents, the most common types include:

*Postural kyphosis. This type mainly becomes apparent in adolescence. The onset of postural kyphosis generally is slow. It’s more common in girls. Poor posture or slouching may cause stretching of the spinal ligaments and abnormal formation of the bones of the spine (vertebrae). Postural kyphosis often is accompanied by an exaggerated inward curve (hyperlordosis) in the lower (lumbar) spine. Hyperlordosis is the body’s way of compensating for the exaggerated outward curve in the upper spine.

*Scheuermann’s kyphosis.
Like postural kyphosis, Scheuermann’s kyphosis typically appears in adolescence, often between ages 10 and 15, while the bones are still growing. Also called Scheuermann disease, it’s slightly more common in boys. Scheuermann’s kyphosis may deform the vertebrae so that they appear wedge shaped, rather than rectangular, on X-rays. There may be another finding, known as Schmorl’s nodes, on the affected vertebrae. These nodes are the result of the cushion (disk) between the vertebrae pushing through bone at the bottom and top of a vertebra (end plates).

The cause of Scheuermann’s kyphosis is unknown, but it tends to run in families. Some people with this type of kyphosis also have scoliosis, a spinal deformity that causes a side-to-side curve. Adults who developed Scheuermann’s during childhood may experience increased pain as they get older.

*Congenital kyphosis
. A malformation of the spinal column during fetal development causes kyphosis in some infants. Several vertebrae may be fused together or the bones may not form properly. This type of kyphosis may worsen as the child grows. In some cases, congenital kyphosis eventually leads to paralysis of the lower body (paraplegia).

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Causes in adults
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Disorders that may cause a curvature of the spine in adults, resulting in kyphosis, include:

*Osteoporosis,
a bone-thinning disease that’s associated with fractures of the vertebrae, which cause compression of the spine and contribute to kyphosis
*Degenerative arthritis of the spine, which can cause deterioration of the bones and disks of the spine
*Ankylosing spondylitis, an inflammatory arthritis that affects the spine and nearby joints
*Connective tissue disorders, such as Marfan syndrome, that may affect the connective tissue’s ability to hold joints in their proper position
*Tuberculosis and other infections of the spine, which can result in destruction of joints
*Cancer or benign tumors that impinge on bones of the spine and force them out of position
*Spina bifida, a birth defect in which part of the spine doesn’t form completely, and which causes defects of the spinal cord and vertebrae
*Conditions that cause paralysis, such as cerebral palsy and polio, and that stiffen the bones of the spine

Symptoms:
•Difficulty breathing (in severe cases)
•Fatigue
•Mild back pain
•Round back appearance
•Tenderness and stiffness in the spine


Diagnosis:

TestsPhysical examination by Your doctor confirms the abnormal curve of the spine. Your doctor will record a history of your condition and conduct a physical exam. The  physical  exam  may include the following:

*Forward bend tes
t. Your doctor asks you to bend forward from the waist while he or she views the spine from the side. With kyphosis, the rounding of the upper back may become more obvious in this position. In postural kyphosis, the deformity corrects itself when you lie on your back.
*Neurological functions test. Although neurological changes accompanying kyphosis are rare, your doctor may check for them by looking for weakness, changes in sensation or paralysis below the site of the kyphosis.
*Spinal imaging tests. Your doctor may take an X-ray to confirm the kyphosis, determine the degree of curvature and detect any deformity of the vertebrae, which helps identify the type of kyphosis. For example, the appearance of wedge-shaped vertebrae or other features on X-ray differentiates between postural kyphosis and Scheuermann’s kyphosis. In older adults, X-rays may show arthritic changes in the spine, which can contribute to an increase in pain. If your doctor suspects a tumor or infection, he or she may request an MRI of your spine.
*Pulmonary function tests. Your doctor may also use breathing tests to assess any breathing difficulty caused by the kyphosis.

The doctor will also look for any nervous system (neurological) changes (weakness, paralysis, or changes in sensation) below the curve.


Other tests may include:

•Spine x-ray
•Pulmonary function tests (if kyphosis affects breathing)
•MRI (if there may be a tumor, infection, or neurological symptoms)

Treatment:

Kyphosis treatment depends on the cause of the condition and the signs and symptoms that are present.

Less serious cases

In some cases, less aggressive types of treatment are appropriate:

*Postural kyphosis. This type of kyphosis doesn’t progress and may improve on its own. Exercises to strengthen back muscles, training in using correct posture and sleeping on a firm bed may help. Pain relievers may help ease discomfort if exercise and physical therapies aren’t fully effective.
*Structural kyphosis. For kyphosis caused by spinal abnormalities, treatment typically depends on your age and sex, the severity of your symptoms and how rigid the curve in your spine is. With Scheuermann’s kyphosis, monitoring for progression of the curvature may be all that’s recommended if you have no symptoms. Anti-inflammatory medications may help relieve pain. General conditioning exercises and physical therapy may help alleviate symptoms.
*Osteoporosis-related kyphosis. Multiple compression fractures in people who have low bone density can lead to abnormal curvature of the spine. If no pain or other complications are present, treatment for the kyphosis may not be necessary. But your doctor may recommend treatment of the osteoporosis to prevent further fractures and worsening of the kyphosis.
More serious cases
More severe cases of kyphosis require more aggressive treatment. The primary approaches are bracing and, as a last resort, surgery. With children and adolescents, the sooner treatment begins, the more effective it may be in halting the deformity.

When bracing is necessary

If your teenager is still growing and has moderate to severe kyphosis, your doctor may recommend bracing. Wearing a brace may slow or prevent further progression of the curvature and may even provide some correction.

There are several types of braces for children who have kyphosis. Your doctor can help you decide which brace would be most effective for your child.

Children who wear braces usually have few restrictions and can participate in most activities. Although a brace may feel uncomfortable and awkward at first, it must be worn as prescribed to be effective. Once the bones are fully grown, your child can be weaned off the brace according to your doctor’s instructions.

There are different types of braces for treating kyphosis in adults, varying from postural training devices to rigid body jackets. The goal of bracing in adults is typically to control pain.

When surgery is necessary

Spinal surgery carries many risks, so your doctor may recommend surgery only if you or your child has any of the following:

*Severe curvature of the spine that doesn’t respond to other treatment measures
*Kyphosis that continues to worsen
*Debilitating pain that doesn’t respond to medication
*Resulting neurological problems, such as paralysis
*Kyphosis related to a tumor or infection
Surgery also may be recommended for an infant with congenital kyphosis, in order to straighten the spine.

The goal of surgery is to reduce the degree of curvature. This is commonly done by fusing or joining the affected vertebrae. Doctors typically perform the surgery through incisions in the back, during general anesthetic.

Fusing the vertebrae involves connecting two or more of them with pieces of bone taken from the pelvis. Eventually, the vertebrae fuse with the bone pieces to prevent further progression of the curvature. Doctors attach metal rods, hooks, screws or wires to the spine to hold the vertebrae together while the bones fuse, which may take several months. Doctors leave the metal in the body to help support the fused area even after the bones have fused.

A drawback of spinal fusion is that it stops growth in that area of the spine. A child’s ultimate height isn’t affected greatly because the leg bones and the unaffected portion of the spine continue to grow normally.

The complication rate for spinal surgery is relatively high. Complications include bleeding, infection, pain, nerve damage, arthritis and disk degeneration. If the surgery fails to correct the problem, a second surgery may be needed.

Other procedures
Procedures called vertebroplasty and kyphoplasty have been developed recently to treat vertebral fractures. These procedures involve injecting a type of inert cement into the affected vertebrae. They can be effective in controlling pain associated with compression .

Coping & Support:
Adolescence is a time when young people are struggling with physical and emotional changes. Having a noticeable spinal deformity or wearing a brace can make this challenging time even more difficult.

Make sure your child has caring people to turn to, including supportive family and friends, or even a professional counselor, if necessary. Consider joining a support group for parents and kids with kyphosis or other spinal deformities to help you and your child connect with others facing similar challenges.

Prognosis:
Adolescents with Scheuermann’s disease tend to do well even if they need surgery, and the disease stops once they stop growing. If the kyphosis is due to degenerative joint disease or multiple compression fractures, surgery is needed to correct the defect and improve pain.


Possible Complications

•Decreased lung capacity
•Disabling back pain
•Neurological symptoms including leg weakness or paralysis
•Round back deformity

Prevention:

Treating and preventing osteoporosis can prevent many cases of kyphosis in the elderly. Early diagnosis and bracing of Scheuermann’s disease can reduce the need for surgery, but there is no way to prevent the disease.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://en.wikipedia.org/wiki/Kyphosis
http://www.mayoclinic.com/health/kyphosis/DS00681
http://www.nlm.nih.gov/medlineplus/ency/imagepages/9561.htm
http://www.spineuniverse.com/conditions/kyphosis/kyphosis-scheuermanns-disease
http://www.nlm.nih.gov/medlineplus/ency/article/001240.htm
http://www.bbc.co.uk/health/physical_health/conditions/backcurves1.shtml

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Categories
Ailmemts & Remedies

Achondroplasia

Definition:
Achondroplasia is a genetic (inherited) bone disorder that occurs in one in 25,000 live births. Achondroplasia is the most common type of dwarfism, in which the child’s arms and legs are short in proportion to body length. Further, the head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches). The average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch).

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When a baby is developing in the womb, the skeleton first forms out of cartilage, which then this develops into bone (except in certain areas such as the nose or ears where cartilage remains).

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In achondroplasia, this process doesn’t happen as it should, especially in the long bones of the arms and legs. Instead, the cartilage cells in the growth plates turn only very slowly into bone.


Symptoms:

The following are the most common symptoms of achondroplasia. However, each child may experience symptoms differently. Symptoms may include:

*shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs

*large head size with prominent forehead and a flattened nasal bridge

*crowded or misaligned teeth

*curved lower spine – a condition also called lordosis (or “sway-back”) which may lead to kyphosis, or the development of a small hump near the shoulders that usually goes away after the child begins walking.

*small vertebral canals (back bones) – may lead to spinal cord compression in adolescence. Occasionally children with achondroplasia may die suddenly in infancy or early childhood in their sleep due to compression of the upper end of the spinal cord, which interferes with breathing.

*bowed lower legs

*flat feet that are short and broad

*extra space between the middle and ring fingers (Also called a trident hand.)

*poor muscle tone and loose joints

*frequent middle ear infections which may lead to hearing loss

*normal intelligence

*delayed developmental milestones such as walking (which may occur between 18 to 24 months instead of around one year of age)

These bone abnormalities can lead to a range of health problems, as well as psychological trauma caused by the stigma of looking different from the crowd. Most children with achondroplasia have normal intelligence.

Babies with achondroplasia may have poor muscle tone and be slow to stand and walk. Spinal problems can develop, and the lower part of the legs may become bowed. There may be dental problems because teeth are often crowded and poorly aligned. Middle ear infections occur frequently and can cause mild to moderate hearing loss.

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Causes:
Achondroplasia is inherited by an autosomal dominant gene that causes abnormal cartilage formation. Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected. Dominant means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait. So, in some cases, the child inherits the achondroplasia from a parent with achondroplasia. The majority of achondroplasia cases (80 percent), however, are the result of a new mutation in the family – the parents are of average height and do not have the abnormal gene.

As mentioned, persons with achondroplasia have a 50 percent chance to pass the gene to a child, resulting in the condition. If both parents have achondroplasia, with each pregnancy, there is a 50 percent chance to have a child with achondroplasia, a 25 percent chance that the child will not inherit the gene and be of average height, and a 25 percent chance that the child will inherit one abnormal gene from each parent, which can lead to severe skeletal problems that often result in early death.

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Geneticists have found that fathers who are older than 45 have a higher chance of having children with certain autosomal dominant conditions such as achondroplasia, but no cause for the new mutations in sperm has been discovered at this time.

The gene responsible for achondroplasia was discovered in 1994 making accurate prenatal diagnosis available, in most cases.

There are two other syndromes with a genetic basis similar to achondroplasia: hypochondroplasia and thanatophoric dysplasia.

In approximately 75 per cent of cases the problem results from a new mutation of a gene (that is, neither parent carries the faulty gene), but in some cases a child inherits achondroplasia from a parent who also has the condition. There is also a link with older fathers, over the age of 40.

Diagnosis:

Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. DNA testing is now available before birth to confirm fetal ultrasound findings for parents who are at increased risk for having a child with achondroplasia.A DNA test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited, a lethal condition leading to stillbirths.
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Radiologic findings:
A skeletal survey is useful to confirm the diagnosis of achondroplasia. The skull is large, with a narrow foramen magnum, and relatively small skull base. The vertebral bodies are short and flattened with relatively large intervertebral disk height, and there is congenitally narrowed spinal canal. The iliac wings are small and squared,[4] with a narrow sciatic notch and horizontal acetabular roof. The tubular bones are short and thick with metaphyseal cupping and flaring and irregular growth plates. Fibular overgrowth is present. The hand is broad with short metacarpals and phalanges, and a trident configuration. The ribs are short with cupped anterior ends. If the radiographic features are not classic, a search for a different diagnosis should be entertained. Because of the extremely deformed bone structure, people with achondroplasia are often double jointed.

The diagnosis can be made by fetal ultrasound by progressive discordance between the femur length and biparietal diameter by age. The trident hand configuration can be seen if the fingers are fully extended.

Another distinct characteristic of the syndrome is thoracolumbar gibbus in infancy.


Treatment :

Currently, there is no way to prevent or treat achondroplasia, since the majority of cases result from unexpected new mutations. Treatment with growth hormone does not substantially affect the height of an individual with achondroplasia. Leg-lengthening surgeries may be considered in some very specialized cases.

Detection of bone abnormalities, particularly in the back, are important to prevent breathing difficulties and leg pain or loss of function. Kyphosis (or hunch-back) may need to be surgically corrected if it does not disappear when the child begins walking. Surgery may also help bowing of the legs. Ear infections need to be treated immediately to avoid the risk of hearing loss. Dental problems may need to be addressed by an orthodontist (dentist with special training in the alignment of teeth).

There is research into the family of genes called fibroblast growth factors, in which the gene that causes achondroplasia is included. The goal is to understand how the faulty gene causes the features seen in achondroplasia, in order to lead to improved treatment. These genes have been linked to many heritable skeletal disorders.

However, if desired, the controversial surgery of limb-lengthening will lengthen the legs and arms of someone with achondroplasia.

Usually, the best results appear within the first and second year of therapy.  After the second year of GH therapy, beneficial bone growth decreases. Therefore, GH therapy is not a satisfactory long term treatment.

Prognosis:
People with achondroplasia seldom reach 5 feet in height. Intelligence is in the normal range. Infants who receives the abnormal gene from both parents do not often live beyond a few months.

Complications:
* Clubbed feet
* Fluid build up in the brain (hydrocephalus)

Epidemiology:

Achondroplasia and is one of several congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia. This makes estimates of prevalence difficult, with changing and subjective diagnostic criteria over time. One detailed and long-running study in the Netherlands found that the prevalence determined at birth was only 1.3 per 100,000 live births.  However, another study at the same time found a rate of 1 per 10,000.


Prevention:

Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.

* Reviewed last on: 11/2/2009
* Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.yalemedicalgroup.org/stw/Page.asp?PageID=STW026342
http://en.wikipedia.org/wiki/Achondroplasia
http://www.bbc.co.uk/health/physical_health/conditions/achondroplasia1.shtml
http://www.umm.edu/ency/article/001577all.htm

http://wikis.lib.ncsu.edu/index.php/Group_6_HYALOS_(hyaline_cartilage)

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