Genetic disorders, diseases, illnesses or any type of health-related issues have been coexisting ever since humanity exists. It is impossible to talk about human-being excluding the health-related factors. There is a well-known birth defect, but often unforeseen: Spina Bifida. Also referred as cleft spine, spina bifida, is a birth defect that affects the spinal column. It progresses from a “split like opening” in the spinal vertebrae, and it is also the most common of a group of birth defects known as neural tube defects, which affect the central nervous system (brain and spinal cord). “About 1,500 to 2,000 babies of the 4 million born in the U.S. every year have spina bifida.” And thanks to advances in medicine, 90% of babies who have this …show more content…
Most of them such as spina bifida are unexpected, even though they could be diagnosed through blood/screening test. Statistically one out of every 33 babies in the United States born with a birth defect and the common causes are ingestion of drugs or alcohol during pregnancy, genetic, hereditary or environmental influences. Grosso modus, spina bifida is “a congenital defect in the walls of the spinal canal caused by a lack of union between the laminae of the vertebrae during embryonic development.” (Davis, 2017). Spina bifida or "split spine", begins in the womb, when the tissues that fold to form the neural tube do not close or do not stay closed completely. This causes an opening in the vertebrae, which surround and protect the spinal cord. This occurs just a few weeks (21 to 28 days) after conception, usually before the woman even knows that she is …show more content…
Many people don't even know they have it. “It is a failure if the vertebrae to close without hernial protrusion.” (Davis, 2017). Here, the spinal cord and nerves are usually fine, but there might be a small gap in the spine. People often find out they have it when they get an X-ray for some other reason, like being tested for Tuberculosis. This type of spina bifida causes minor problems and usually disabilities are not present. Meningocele: “Protrusion of meninges through a defect in the skull or spinal column, forming a cyst filled with cerebrospinal fluid” (Merriam-Websters, 2005). This infrequent type of spina bifida happens when a sac of spinal fluid pushes through an opening in the baby's back. Some people have few or no symptoms, while others have problems with their bladder and bowel movements. Myelomeningocele: This is the most severe type of spina bifida. “A hernia of the spinal cord and meninges through the posterior vertebral column, usually found in the lumbosacral spine.” (Davis, 2017). In this one, the baby's spinal canal is open in one or several places in the lower or middle back, and a sac of fluid pokes out. This sac also holds part of the spinal cord and the nerves, and those parts get damaged, causing impairment in urination, defecation and
Spina Bifida is the most common permanently disabling birth defect in the United States. It is a birth defect in which a developing baby's spinal cord fails to develop properly. The term Spina bifida comes from Latin and means "split" or "open" spine. This disorder occurs when the fetus is growing in the womb and its spine doesn’t form correctly. Some of the vertebrae don’t close to make their normal ring shapes around the spinal cord. This defect happens at the end of the first month of pregnancy, when a baby's spine and spinal cord are developing. Causes of Spina Bifida Causes that cause this disorder are low levels of the vitamin folic acid during pregnancy. Not having enough folic acid in the diet before and during early pregnancy can increase a woman's risk of Spina bifida and possibility of other neural tube defects. A high fever during pregnancy may increase a woman's chance of having a baby with Spina bifida. Some evidence suggests that genes may be a cause of Spina Bifida, but most babies born with Spina bifida have no family history of the condition. Also, women with epilepsy
...can see if this condition runs in the family. A physical examination is a good way to tell is there is any type of muscle weakness or spinal curvature.
Scoliosis is found and diagnosed in many ways. Some ways it is found is looking at medical history, having physical examinations, and X-rays. Most cases are unknown, or caused by already diagnosed medical conditions like cerebral palsy and muscular dystrophy. Also another kind is idiopathic scoliosis. Idiopathic scoliosis is also unknown why people get it. Medical
During fetal growth, the neural tube can develop any number of abnormalities. These “malformations occur because the tube fails to close properly, because parts of it are missing, or because part of the tube is blocked” (neural tube defect, 2014). Ramírez-Altamirano et al. (2012) have stated that “the most common types of neural tube defect are anencephaly, spina bifida, and encephalocele, all of which represent 95% of the cases.” Anencephaly is the most severe form of neural tube defect. In this condition the cephalic portion of the neural tube fails to close properly, resulting in very little cerebral tissue forming. Infants born with this defect are usually stillborn or live for a very short amount of time. Spina bifida consists of “a group of malformations of the spine in which the posterior portion of the bony canal containing the spinal cord is completely or partially absent” (Frazier & Drzymkowski, 2013, p. 63). This condition typically affects the lumbar portion of the neural tube, a...
Typically, the genetic defect is dominant and involves the COL1A1 and COL1A2 genes. There have been over 800 mutations of these genes discovered, and they are located on chromosomes 7 and 17.3 Because the majority of OI cases are from a dominant mutation, there is a 50% chance that a person with OI will pass it on to his or her children. Although, the majority of children with OI inherit the defective gene from one of their parents, the severity and symptoms can vary greatly between parents and their offspring. Sometimes, children with OI are born into a family with no history of the disorder. This percentage is approximately 35%.4 Estimates suggest that 7% of children with unexplained fractures have an underlying medical condition.
About one out of every 10,000 to 100,000 births, a child is born with the birth defect: Poland Syndrome or Poland Anomaly. The birth defect can be apparent from either birth or adolescence depending on ...
This occurs when the fetal head is in the wrong position. It can also be caused by damage to the muscles of the neck or the neck of the blood supply problems.
...hich inherited traits, such as those for genetic disease, can be tracked over generations. Throughout out the course of human development, scientists will continue to find new new ways to help the human race through the discovery of the human gene inside of each of us, its uses, as well as complications, that can help the survival of our species.
This can be diagnosed during the pregnancy or after the baby is born. “Anencephaly would result in an abnormal result on a blood or serum screening test or it might be seen during an ultrasound.” This birth defect is more common in girls than boys. There is also no cure or standard treatment since most die shortly after birth. As a way to offer support to these families, many hospitals offer perinatal hospice care. A perinatal hospice approach helps these families through the process: pregnancy, birth, and death. ("Facts about
warm) in the left upper and lower extremities; decreased strength and movement of the right upper and lower extremities and of the left abdominal muscles; lack of triceps and biceps reflexes in the right upper extremity; atypical response of patellar, Achilles (hyper) reflexes in the right lower extremity; abnormal cremasteric reflex in the right groin; fracture in cervical vertebrae #7; and significant swelling in the C7-T12 region of the spinal canal (Signs and symptoms, n.d.). The objective complaint of a severe headache could also be consistent with a spinal cord injury (Headache, nausea, and vomiting,
Meletis, K., Barnabe-Heider, F., Carlen, M., Evergren, E., Tomilin, N., Shupliakov, O., & Frisen, J. (2008). Spinal Cord Injury Reveals Multilineage Differentiation of Ependymal Cells: PLoS Biology, 6, 1494 – 1507.
In this paper, I will argue that genetic therapies should be allowed for diseases and disabilities that cause individuals pain, shorter life spans, and noticeable disadvantages in life. I believe this because everyone deserves to have the most even starting place in life as possible. That is no being should be limited in their life due to diseases and disabilities that can be cured with genetic therapies. I will be basing my argument off the article by “Gene Therapies and the Pursuit of a Better Human” by Sara Goering. One objection to genetic therapies is that removing disabilities and diseases might cause humans to lose sympathy towards others and their fragility (332). However, I do not believe this because there are many other events and conditions in society that spark human compassion and sympathy towards others.
Scoliosis is a progressive disease. In its early stages a mild rotation and rib deformity is detected. As it progresses more vertebrae rotate, causing the ribs to crowd together on one side of the chest and to spread apart on the opposite side. The disease is usually first identified in persons 10 to 17 years old. Most cases occur in girls and become apparent during the rapid growth phase of puberty. Conditions also include shoulder unleveling, waistline discrepancies, acute headaches, shortness of breath, rib hump, chronic fatigue, and mood swings.
If the spine is normal then the issue is part of the child growing or a different issue that is causing enough pain to warent a trip to the doctors. If the angle is off however then it will be diagnosed as Scoliosis, Lordosis or Kyphosis respectively.
Soe, M. M. (2012). Health risk behaviors among young adults with spina bifida. Developmental Medicine & Child Neurology, 1057–1064.