My choice for a genetic disorder is Spinal Muscular Atrophy also known as SMA. SMA is an inherited or genetic disorder that affects spinal motor neurons. Without these properly functioning neurons, patients have increased muscle weakness. In some severe cases patients will lose the ability to breath or swallow on their own. According to the National Human Genome Research Center, 1 in 6,000 to 1 in 10,000 people are affected by SMA.…
Part I Note anything unusual about Ellie’s behaviour or appearance There are two references to shaking hands in the passage. Additionally, she seems to be very thin and have large, perhaps slightly bulging eyes. Behaviourally, she seems stressed and despondent, unable to concentrate or retain information, and and seems to be suffering from insomnia. She then gets a sinus infection, which is perhaps a sign of a compromised immune system.…
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.…
Trench Mouth Trench mouth is a sudden (acute) infection that affects the gum tissue between your teeth (gingivitis). This infection quickly kills the gum tissue and causes painful sores (ulceration). Trench mouth causes very bad gum pain, very bad breath, and bleeding gums. The infection is not passed from person to person. CAUSES…
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.…
Krabbe disease Brief description of the disorder: Krabbe disease, a rare genetic degenerative disorder of the central and peripheral nervous systems. It is initiated from a lack of galactocerebrosidase, a vital enzyme for myelin metabolism. This disease is one of a group of genetic disorders called the leukodystrophies, which affects the growth of development of the myelin sheath, the fatty substance that insulates and protects the nerves in the brain and spinal cord. The myelin sheath continues to develop after birth, with the growth rate peaking before 18 months of age. The myelin sheath is completely developed when a person is about 20 years old.…
Cri du chat Syndrome Cri du chat syndrome is an uncommon genetic condition that is caused by missing genetic material on chromosome 5. Specifically a part on the small arm (p) of chromosome 5 is absent. The disorder occurs in 1 in 20,000 to 50,000 live births according to the US National Library of Medicine. What causes this to happen is currently unknown.…
Absence of any unusually frequent or severe headaches; any head injury, dizziness (syncope), or…
All of these tests can be used to help determine if somebody has…
MLD is a general learning difficulty which falls in between severe intellectual disability and no special educational needs, and the definitions are unclear, which makes it difficult in assessing and identify. When static, standardised tests are used, it may indicate that the child may have MLD, but it is unable to assess other difficulties that the child may have, such as motivation and emotions. It is only able to assess the cognitive ability of the…
Introduction Frontotemporal dementia (FTD) is a rare, progressive brain disorder that causes memory loss. FTD describes a range of diseases that often start with changes in behavior, speech, and decision-making processes. As FTD progresses, it affects short-term memory. Over time, FTD causes the frontal and temporal anterior lobes of the brain to shrink. These are the parts of the brain that control behavior and speech.…
Noonan report Noonan syndrome is a genetic disorder that can cause failure/defects to any part of the body. Although it's been around for nearly 200 years, scientists still know very little about why the specific gene mutates and how it can be cured or even prevented. Common Defects are are heart problems, an enlarged head, wide eyes compared to the nose, extra neck skin, swollen hands, feet, fingers, and toes, a short yet wide nose, thick lips with pointed corners, etc. Scientists at Harvard are working hard for the cure but they haven't come up with any big news. Scientist don't know exactly what specific gene mutates to cause Noonan, but they have narrowed it down to 4 genes, PTPN11, SOS1, RADF1, and KRAS.…
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…
The diagnosis of MD, along with the severity, and the specific type is of immense importance. Once the type and severity of the disease is figured out, the team of caregivers formulate a plan of treating the patient and improving the patient’s quality of care. The first step for a diagnosis is a thorough physical examination by a doctor. Early and overall physical signs of MD will vary due to which specific dystrophy is present. The simplest early physical finding is generalized weakness that starts proximal and spreads distally.…