Tuberous Sclerosis Research Paper

A person has a 0.55–0.7% chance of developing any type of brain tumor in their lifetime (Mohammadi and Schroeder 1). A brain tumor is a mass of abnormal cells located somewhere in the brain. Brain tumors can be caused by many different disorders including Tuberous Sclerosis Complex (TSC). Some tumors caused by this disorder are inoperable. Inoperable brain tumors can now be treated using new advanced technology. Technological advances provide new hope for patients who have inoperable brain tumors and TSC.

In conclusion, scoliosis may vary from your family and genetics also comes from bad posture and balance. Scoliosis does vary in different types and is mostly to be seen in males rather than females. During the process of having scoliosis you may have lower/upper back and neck pain. If you do not know whether you have scoliosis or not you may see a physician to determine so. As a result , surgery is the only long lasting way to cure scoliosis and doctor’s visits is the only way to prevent

These brown coloured cancerous growths develop when unrepaired DNA has committed damage to the body’s skin cells. It is known that it is the most commonly triggered by vigorous amounts of sunshine, over excessive use of tanning bed and UV lights which result in making mutations in the skin that produces the skin cells to over multiply at a quick rate which can eventually form nasty tumours.

There are three different types of musculoskeletal disorders that effect the spinal column: Lordosis, Kyphosis, and Scoliosis. Scoliosis effects the largest amount of people and also effects the widest range of ages. There are three different types of scoliosis and they are categorized by the age at which the deformity developed. Infantile scoliosis develops from birth to 4 years old, juvenile scoliosis develops from 4 to 9 years old, and adolescent scoliosis develops from 10 to 18 years. Scoliosis is most commonly developed in the adolescent stage, it compromises approximately 80 percent of all scoliosis cases (Baaj, 2017). Any

During the process of amniocentesis, usually done between 15 and 20 weeks of pregnancy, a needle is inserted through the abdomen and into the uterus in order to retrieve a sample of amniotic fluid for testing. As for CVS, throughout the cervix a thin tube is inserted in order to extract a small sample of the placenta for testing. This is usually done between 10 and 12 weeks of pregnancy. If pregnant or considering it is recommended you and your partner be tested to see if you are carriers for the gene. When one or both partners are carriers of the disease genetic testing is typically done. If both partners carry the gene for the disease their child has a 25% chance of developing the disease (Elsevier, 2007). In order to inherit the disease the child must receive 2 copies of the defective gene, one from each parent. A blood test can be performed after birth in order to see if your child has the disease. The most common form of the disease is classic infantile. Between 3 and 6 months of age signs will begin to show in this case. Progression is fairly quick and children with the disease usually will not live past the age of 4. The disease also causes severe mental and physical side effects. Initial symptoms can include seizures, listlessness, decreased eye contact, delayed mental and social skills, slow body growth, increasing irritability, increased startle reaction, and the infant may stop smiling, crawling or rolling over, and lose the ability to grasp and reach out (Weiss, 2010). Symptoms that occur later on may include deafness, blindness, a loss of intellectual skills, difficulties eating, a loss of motor skills, and abnormal body tone (Weiss, 2010). In juvenile Tay-Sachs symptoms typically appear between the ages of 2 and 5. The disease progresses more slowly, but death usually occurs by the time the child

Treacher Collins disease is a rare, congenital, craniofacial condition affecting bones, jaws, skin, and muscles of the face. This disorder is caused by a mutation in the gene on chromosome 5. This chromosome affects facial development. This mutation can appear new or be passed on. A person with Treacher Collins has a 50/50 chance of passing it on to their offspring. This disorder comes along with many symptoms such as small or missing ears, no ear canals, missing brow and cheek bones, speech and swallowing problems, coloboma of the eyelids, wide mouth which gives limited mouth opening, dry eye syndrome (causes infections) and downward sloping eyes. Persons with this disease can be born blind, deaf, suffer from depression and/or are unable to

an increased risk of fractures and as the disorder may progress it can affect posture

The body is a very diverse and complex system. Tay-Sachs disease can be a very scary but rare illness. Tay-Sach’s is a genetic disease which causes destruction to vital body systems, such as the brain and spinal cord. The invisible disease at first, begins within the fetus at early stages of pregnancy. Up until the age of 6 months, this death causing disease is imperceptible.

Treacher’s Syndrome is caused by the presence of one or multiple allels that are not working the correct way or not functioning at all. The 5th chromosome is where the syndrome would be located which affects facial development. Typically, 40% of the time one of the two parents have Treacher Collins Syndrome or it runs in the family.

The adult form of Schindler disease is also known as Schindler disease type II or Kanzaki disease.In this, symptoms might not appear until the third or second decade of life. A characteristic symptom of type II Schindler disease is involvement of tiny blood vessels called telangiectasia present in the skin that is responsible for small, reddish skin lesions, and an increase of its horny layer known stratum corneum; hyperkeratosis referred to as angiokeratomas. Small lymph vessels may undergo dilations which may lead to swelling or lymphedema mainly of the lower

Gonadal Dysgenesis, also known as turner syndrome, is a rare medical disorder that affects 1 in every 2,500 girls (kidshealth). It is a chromosomal that occurs when one of the two X chromosomes found in females are missing or is incomplete. This condition only affects females. Although researches don’t know exactly what cause turner syndrome, they do know that it’s a problem with a female chromosome. Females who are born with Tuner Syndrome are short in height and effects their sexual development and the ability to have children. Other features of this condition that can vary among women who have turner syndrome include: extra skin on the neck, heart defects, puffiness or swelling on the hands and feet, and/or kidney failure.

Scoliosis is a disease that affects the spine. There are many people that have spine problems, but with scoliosis a person will have a curved spine. Studies show that it is more common to diagnose someone in their younger years. Scoliosis usually occurs in the thoracic area and the lumbar region. Doctors will look at specific criteria to diagnose a patient and move onto possible treatments.

Type 1 signs are birthmarks, freckles, neurofibromas, and lisch nodules. If 6 or more birthmarks appear on a child before the age of 5 the type 1 neurofibromatosis would be considered. If outbreaks of freckles in unlikely places such as groin and armpits this could be a possible sign for type 1. If neurofibromas (which is non-cancerous tumors that may grow on nerves of skin) appear deeper inside the body this may also be considered a sign for type 1. Also, if lisch nodules appear in the iris of the eye, this can also be a sign for neurofibromatosis type 1. Type 2 signs are acoustic neuroma, other tumors, and cataracts. Acoustic neuroma are tumors that develop next to the eighth cranial nerve, which goes from the brain to the inner ear. Acoustic neuroma is the most common sign of type 2 and has symptoms of facial numbness, gradual hearing loss, loss of balance, ringing of the ear, vertigo, and facial weakness. If other tumors develop on skin, brain, or spinal cord then this is a sign of type 2. For older people, cataracts can also be a sign for type 2

One of the biggest challenges I faced in my life was dealing with scoliosis at a young age and then later having to get a spinal fusion surgery at the age of thirteen. I was diagnosed with Scoliosis at the age of nine by my Doctor at a routine check up. At that point, she had told me that I needed to start seeing an Orthopedic Surgeon to help keep an eye on my back; she checked how much it was curved. It had started out as a twenty six degree curve, then later it had shifted to a thirty two degree curve at the age of eleven. My surgeon had said that I most likely wouldn’t need surgery until I was at least eighteen.

Scoliosis is a complex deformity or curvature of the spine and entire torso and has been recognized clinically for centuries (Asher, Marc A.). “For a few of the patients an underlying cause can be determined, including congenital changes, secondary changes related to neuropathic or myopathic conditions, or later in life from degenerative spondylosis. However, the cause of most scoliosis is not known and since about 1922 such patients have been diagnosed as having idiopathic scoliosis (Asher, Marc A.).”