Review Questions # 5 2. Distinguish between autosomal dominant and autosomal recessive disorders and provide a couple examples of each. When dealing with genetic disorders its important to understand how they are inherited. There are two ways a child can inherited a genetic disorder from their parents. Autosomal dominant disorder is where one parent has a genetic disorder in which it has already manifested such as familial hypercholesterolaemia, marfan’s syndrome, and achondroplasia(dwarfism) and this dominant gene is inherited by their child who will also develop the disorder.…
In people with MD, though, these genes have wrong information or leave out important information, so the body can't make these proteins properly. Most kids with MD have Duchenne MD. Kids with Duchenne MD look and act just like other kids when they're babies. But when they're between 2 and 6 years old, the muscles in their arms, legs, and pelvis (hips) begin to get weaker. The first signs of weakness might be trouble with running, going up the stairs, or getting up off of the floor.…
There is always genetic testing that parents can do to see what their chances are of having the mutation. As said from the national organization of rare diseases. “Reportedly, the…
Additional testing may be necessary to determine the direct source of the mutated gene. Determining whether the mother or the father is the host of the mutated genome source can prove to be rather critical to further determine the severity of the child’s…
Akhenaten, also known as Amenhotep IV was the Pharaoh of Egypt in the 18th century. He was married to Nefertiti and had six girls with her. Four of them died at a young age from an unknown disease. However, they are believed to have passed away from a plague that was going around Egypt at the time. He also had a few other wives, but they were unnamed.…
In order for doctors to give you an accurate diagnosis of the disease, it allows a combination of tests and your doctor will probably ask you questions about your medical history and family history. Even though there is no cure for this disease doctors aim to help patients manage this disease through a numerous amount of ways such as changing your diet and prescribing…
The purpose of this article was to raise awareness of Moebius Syndrome, specifically for perinatal, pediatric, and neonatal professionals. It quantified that through appropriate awareness, children born with Moebius syndrome could receive the appropriate care they deserve. Instead, these individuals go on for years without a correct diagnosis or applicable care. One issue is that with the facial implications as well as the motor control, how can a nurse/healthcare professional let a child with Moebius syndrome fall through the cracks? Because Moebius is rare, it is not implicitly implied that these professionals should know the disorder, but they should be able to make the correct referral when something is noticeably wrong.…
A kid can get the gene passed down to them but not necessarily have the disease. If both the parents carry the gene, then one in four children will actually have the disease. If the parents have four kids, one will have the disease, one will carry it and the other two children will have no remains…
Neurofibromatosis Have you ever her of Neurofibromatosis? Neurofibromatosis is a disease that can be deadly or very harmful. This disease causes bumps to form all over your skin. It also can cause tumors in any part of the nervous system. Some of the major causes of the this disease is abnormal growth of body part such as, legs, arms, head, neck, etc.…
Genetics is random, for an example, if the mom or dad has it, the children will have a fifty fifty chance of getting it, but things will be different if the disorder alleles is dominant. According to the table of Huffman and Sanderson (2014), “Relationship to person with…
It had been determined that specific types of Muscular Dystrophy only affect men. For instance the Duchenne is most commonly known for affecting young children, but Duchenne muscular dystrophy is also know to only affect makes. This type of condition and reductions the muscle in mass and causes it to diminish and become weaker and weaker. This disorder is know to have significant affects on young boy, and by the age of 12 they will require the use of a wheel hair. With time the limbs and spin will become considerably mutilated and there by become compromised.…
Of course theirs is treatment for it, but it cannot be cured. This syndrome is irreversible. Treatment, especially if early, can help reduce some symptoms. There are therapies to help support the child, counseling psychology, and sensory processing. Specialists like pediatrician, provides medical care for infants, children, and teenagers.…
If the answer to that question is yes for you, you immediately need to find out about your family’s genetic history. Heart disease is a genetic disease. If someone’s parents have heart disease, there is a big chance that their child will have it too. Medical conditions that run in a family are inherited or genetic. That means they are caused by changes in genes that are passed down from generations, and many different types of heart diseases are inherited.…
If an individual is suspected of displaying physical signs and symptoms of a disease or condition, a genetic test could confirm it. While some family members may seem unaffected by a genetic abnormality, a test could identify reproductive or psychosocial implications, putting the unaffected members at a higher risk of developing the disease. Diagnostic testing is suitable for all ages and can be performed at birth or any time during life, though it could alter their health care choices and medical…
Prenatal exposure to alcohol has a profound effect on development and health. Fetal Alcohol Syndrome (FAS) is an umbrella term referring to the various effects and conditions caused by prenatal exposure to alcohol. Lasting effects may include learning and growth deficits, central nervous system dysfunction, behavioral dysregulation, and sensory integration dysfunction. Early developmental trauma, such as prenatal alcohol exposure, has a persistent effect on a child’s development and can lead to delays in social, behavioral, and neuropsychological development. By recognizing early developmental trauma, parents and caregivers may provide the best support to their child.…