The Genetic Disease : Achondroplasia

80% of achondroplasias have normal sized parents, which mean that their parents have the genetic disorder dormant in their bodies. (News Medical, March 28, 2014.)

The purpose of this experiment was to measure the T4 reversion rate to wild type combination, and the recombination frequency recombination frequency of the T4 mutants to the wild type. Also to determine the distance between the two mutants, which are T4 rII 29 and T4 rII 31.

b. How is it caused on a genetic level? Be specific about the chromosome #, genetic mutation, dominant or recessive, and chance of inheriting the disorder.

Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad People, doctors have stated these kids will "grow to be very short," and "would never grow much beyond three feet."( Kusher 1-2) Moreover, there are distinctive physical traits in the face and body. "By the second year of life, there is also under development (hypoplasia) of the facial bones and the lower jaw." ("Hutchinson-Gilford Progeria") Also, "the face appears disproportionately small in comparison to the head, and bones of the front and the sides of the skull (cranium) are unusually prominent." ("Hutchinson-Gilford Progeria") Some other characteristics observed in the face are a thin

There are many treatments to help with keeping people healthy and extending the life expectancy for this disease. One of the treatments

difficult to work with because each case is different, and the course of this disease is

have been trying to find the exact cause of this disease and how it can be treated so

Outline the causes, incidence and risk factors of the identified condition and how it can impact on the patient and family

Extremities: equal movement of all extremities, absence of any deformity. Joint symmetrical, thigh folds symmetrical, hip abduction normal, equal length of limbs.No hip dislocation present.

She has increased endurance to walking and increased endurance to sitting and standing, which allows her to participate in more of her activities of daily living. She has increased range of motion of both the cervical and lumbosacral spine with increased strength. However, the physical examination continues to show a residual C5-C6 and L3-L4 radiculopathy of both the right upper and lower extremities, which has failed to completely resolve under present treatment

Hypotonia and developmental delay are generally evident by three to six months of age and are the most common symptoms of nervous system impairment. Traits that are present in affected individuals are lack of speech, irritability, late in sitting up, moreover most never crawl or walk. During the first few years of life, dystonia, choreoathetosis, and opisthotonus can present as a result of extrapyramidial involvement. Extensor plantar reflexes, hyperreflexia, and spasticity can occur and are signs of pyramidial involvement. Often, individuals are initially diagnosed with athetoid cerebral palsy due to the similar neurological aspects. Most individuals will never walk and become lifelong wheelchair users due to the extent of motor disability.

There are two types of diseases, infectious and genetic. Unlike infectious diseases that are caused by organisms such as bacteria, genetic disorders are caused by mutations in an organism’s DNA. Cystic Fibrosis is a genetic disorder that is recessive autosomal and causes the creation of thick and sticky mucus. Because the disorder is recessive there must be two recessive alleles present for the trait to be expressed. Whereas in dominant disorders only one dominant allele needs to be present to express a disorder. For there to be two recessive alleles, both of the parents must be homozygous recessive or heterozygous for the offspring to express the recessive trait. If the offspring is heterozygous they will become carriers of the disorder and

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed.

Patients obviously experience height issues, often medical problems can follow along with the disease, and psychological issues can occur. The height problem often presents issues that change a patient’s physical and psychological conditions. The physical effect can include an immature appearance, a chubby body build, a prominent forehead, and an underdeveloped bridge of the nose. Many people who have been diagnosed with Pituitary Dwarfism have said that these flaws have caused self esteem issues, especially during childhood. Dwarfs struggle everyday doing simple tasks like opening a car door and reaching things off a shelf. Although these things feel embarrassing and demoralizing, this does mean they are not real people. A common non-medical symptom of Pituitary Dwarfism is the emotional aspects. Often times dwarfs are treated like they are objects and take pictures as if they are an animal at the zoo. In addition to that, many derogatory words such as ‘midget’ are called out in a rude fashion to them while they are just trying to go about their daily lives. Although the people suffering from Pituitary Dwarfism seem like they are so different, they are not. They have jobs, get married, have kids, and have the same intellectual ability as other humans do. Also, they have the same life expectancy as someone who does not suffer from Pituitary Dwarfism. More medical symptoms that follow the disease are vision

Achondroplasia is the disorder that I will be presenting. First, achondroplasia is a form of short-limbed dwarfism. It is where the cartilage it forms into bone instead just being around the bone. There is one gene and chromosome in specific that causes Achondroplasia. The FGFR3 gene and chromosome 4, they are mutated and cause this disorder. Last, there are many symptoms of Achondroplasia. Here are some of the symptoms, the breathing slows or stops for short periods of time, obesity, and recurrent ear infections. This is the description, causes, and they symptoms.