Essay On Achondroplasia

Many people would like to make a difference, not only in their own life, but in others’ lives as well. Deepak Chopra once said, “Everyone has a purpose in life…a unique gift or special talent to give to others. And when we blend this unique talent with service to others, we experience the ecstasy and exultation of our own spirit, which is the ultimate goal of all goals.” All of us, at one point in our lives, have to make the difficult decision of the goals we want to work towards. We all have certain goals, standards, and expectations of ourselves. Not everyone will figure out what they want to be right away, and some will know from the very beginning. My plan for my life is helping others through Speech Language

Achondroplasia is a genetic disorder in which there is a growth hormone deficiency, or there is a genetic mutation in either the father’s sperm or mother’s egg. (mayo clinic, March 20,2014.) Achondroplasia was the first discovered in ancient Egyptian records. People with achondroplasia were considered people with supernatural powers. Many people call dwarfs midgets but to them, it is very disrespectful because midget literally means little person. Some acceptable names that you can use that will not offend them would be little people, LP, person with short stature, or dwarf. Even though dwarfs feel as if they do not have disabilities, the Americans with Disabilities Act (ADA) will protect the rights of dwarfs. (who discovered it? March

Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and

Here are some interesting facts on Achondroplasia. Achondroplasia is a small limbed dwarfism. A disorder of bone growth which stops the changing of cartilage to bone. Here are some major causes of mutations in the FGFR3 gene. The symptoms of Achondroplasia are health problems such as breathing stops or slows sown at small amounts of time, obesity, ear infections, in childhood individuals get a permanent sway of lower back, and pain and weakness in legs. Those are some interesting facts on Achondroplasia.

Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.

According to the article, this movie has been around for 9 million years and since recently, the public concluded that the term “Dwarfs” is too offensive so the name has to be changed. However, according to Warwick Davis, a dwarf actor that starred in Harry Potter and Star Wars personally prefers the term dwarf. He stated, “Personally, I find it quite patronizing when people are offended on our behalf. I am sure there are those out there who do not like the term, but as a short actor, I want to be given the choice about whether I appear in panto or not. I don’t want someone making that decision for me (Timpf).” As well as Peter Burroughs, a Co-director of Willows Management agency and another dwarf actor felt the name changing was

The American Academy of Pediatrics published a systematic review with recommendations for treatment. This is high quality evidence so we

There are many factors that can lead to particular speech disorders such as brain injuries, audio deficiencies, age, and many more. A common problem leading to speech disorders can be identified as Otitis Media with Effusion (OME). OME is an audio problem occurring in the middle ear of children ranging from ages six months to four years (Serpanos & Senzer, 2015). With proper screening starting at birth, Speech Language Pathologist are able to identify this medical condition early on.

In most cases, this condition is caused by a genetic abnormality that interferes with brain growth. The child's brain may not have

The mysterious phenomenon known as white nose syndrome has only been around for 11 years, yet it has had a devastating effect on the bat population. White nose syndrome is a disease which kills hibernating bats, named because of the white fungus coating the muzzle of its victims. Of the over 1,000 bat species in the world, only 7 species seem to be affected by white nose syndrome. This disease can wipe out 89 to 99 percent of a colony, and has already killed more than 5.7 million bats in eastern North America; it shows no signs of slowing down or stopping. The Richmond guarantee would be the perfect opportunity to help contribute to research for white nose syndrome.

Achondroplasia is one type of short-limbed dwarfism where arms and legs are smaller in length but the head and torso look as if there is no deficiency. The word achondroplasia is derived from the phase "lacking cartilage development." Cartilage is hard and durable but is also a flexible tissue that makes up most of the bone structure during the early stages of development. Nonetheless, in achondroplasia there is no problem with developing cartilage, but instead the problem comes in converting it to bone, a development known as ossification, predominantly in the longer bones of the arms, such as the humerus, ulna and radius, and legs, which include the femur, tibia and fibula. Achondroplasia is comparable to additional skeletal syndromes known as hypochondroplasia, but the structures of achondroplasia have a tendency to be more intense. All people suffering with the genetic disorder achondroplasia are very short in physique. The typical height of a mature male with achondroplasia is 131 centimeters, or 4 feet 4 inches, and the typical height for mature females is 124 centimeters, or 4 feet 1 inch. It occurs in every 1 in 40,000 newborns making it the most known category of short limbed dwarfism.

ABNORMALITIES: The abnormalities regarding growth are- Prenatal onset of marked growth deficiency. Average birth weight at term is 1543g (1000 to 2005g) Mean postnatal growth is 1543 deficiency is -7.1 SD +/- 2.08. One adult was 104 cm. Delayed bone age. Genitalia showing Cryptorchidism. In Craniofacies abnormalities are: Microcephaly with secondary premature synostosis. In one-half of cases, head circumference is more retarded than height, while for the remainder it is as retarded as height. Receding forehead. Prominent nose, micrognathia, low- set malformed

It has been found that the symptoms of Achondroplasia contain the most commonly seen ones for people with dwarfism. Such as, a short stature, legs, and arms, limited movements in the area of the elbows, an abnormal head size which contains a significant forehead and a compressed nose bridge, an estimated height of 4 feet, short fingers with a detachment in between the middle and ring finger, a projecting jaw, crowded teeth, and a development of bowed legs. Health experts also uncovered the symptoms of less common types, such as diastrophic dysplasia and spondyloepiphyseal dysplasias. Diastrophic dysplasia may include symptoms such as deformation in hands and feet and restricted movements. On the other hand, Spondyloepiphyseal dysplasias can

Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental

Cyclothymia disorder is a rare mood disorder.Cyclothymia disorder is when you have your highs and lows. Cyclothymia is like bipolar but less extreme. Symptoms of Cyclothymia are alternate between emotional highs and lows, inflated self-esteem, talking more than usual, poor judgment, racing thoughts, decreased need for sleep, tendency to be easily distracted. Cyclothymia cause is specifically not known. But some can be heredity, your body's biochemical processes, and the environment. You should get treatment for this mental disorder as earliest as you can. If not treated it can result to emotional problems. Substance abuse is common. you may also have an anxiety disorder. Take your medication as directed. Even if you feel better don't skip your