Hutchinson-Gilford Progeria Syndrome, also known as HGPS is a very rare genetic disease that is characterized by premature aging. It is so rare that this disease occurs in every one in four million newborns worldwide (“Hutchinson-Gilford Progeria Syndrome”). Dr. Jonathan Hutchinson first described this disease in 1886 (“Learning About Progeria”). Recently there are over ninety-six kids in 34 different countries that are suffering from this rare disease (McNeil, Mark). This disease only affects children and is discovered within their first year. As a newborn, affected children will appear normal, but after about a year or so the affected child’s growth rate begins to slow and they will become much shorter and lighter in weight than normal children their age (“Learning About Progeria”).
This disease results from the phenotypes that promote age acceleration. These phenotypes include craniofacial disproportion, thin skin, alopecia, short stature, and osteoporosis (Mounkes, Leslie, et.al). The children also develop certain characteristics like prominent eyes, thin lips, a small chin, protruding ears, and also a thin beaked-tip nose (“Hutchinson-Gilford Progeria Syndrome”). Children that have this disease also suffer from symptoms of osteoporosis, myocardial infraction, strokes, muscle weakness and hair loss. However, the children suffering from the disease have never experienced dementia or cancer (University of Gothenburg). They also do not suffer from the loss of motor skills such as sitting down, standing up, and walking (“Hutchinson-Gilford Progeria Syndrome”). They also do not suffer from any brain development or intellectual effects (McNeil, Mark). The children living with disease usually die in their early teen ye...
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Learning About Progeria." Learning About Progeria. National Institutes of Health, 27 Dec. 2013. Web. 8 May 2014. .
McNeil, Mark. "DEVIN DEFYING THE ODDS PROGERIA IS AN EXTREMELY RARE, FATAL DISEASE THAT CAUSES PREMATURE AGING." Hamilton Spectator 10 Oct. 2012, sec. FreePress: Pg. FRE4. Print.
Mounkes, Leslie , Serguei Kozlov, Lidia Hernandez, Teresa Sullivan, and Colin Stewart. "A progeroid syndrome in mice is caused by defects in A-type lamins. ." 423: 298. Web. 7 May 2014.
N.d. Hutchinson-Gilford Progeria Syndrome. Web. 21 May 2014. .
University of Gothenburg. "Accelerated aging in children: Promising treatment for progeria within reach." ScienceDaily. ScienceDaily, 16 May 2013. .
Sam Berns or Simpson Gordon Bern’s was born October 23, 1996, and died January 10, 2014.He was born to Dr. Leslie Gordon and Dr. Scott Bern.Who found out that their son Sam has Hutchinson-Gilford Progeria Syndrome. Sam was twenty-two months old then. when
ACHONDROPLASIA is known as being undersized, or less than 50in. in height. Having short limbs, a normal sized trunk, large head with a depressed nasal bridge and small face. This is a result of a disease in the thyroid gland. It can also be caused by Down syndrome or absorption, a cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland secretions. Treatment with thyroxin or thyroid extract early in childhood results in normal growth and development. Somatrophin, also known as the human growth hormone is secreted by the anterior pituitary. Respiratory problems start to occur in infants. Symptoms of problems include snoring and sleeping with neck in a hyperextended condition. The limbs have rhizometic shortening. The legs are straight in infantry but when a child. He begins walking they develop a knock-knee position. When the child continues to walk legs begin to have a bowed-leg look. Occasionally, these curvatures are fixed. As the child continues to walk the kyphosis disappears and the back assumes a lordotic posture. If a delay in child’s walking occurs, the spine should be monitored closely for signs of gibbous formation. In infancy, hypercephalus can occur. Infants head circumference should be monitored close . Monthly checks of head circumference must be monitored. Radiologic studies are indicated if head circumference raises to disproportionately, or if symptoms of hydrocephalus. Child’s pediatrician should have a copy of head circumference curves for children with achondroplasia. Radiologic procedures for dwarfism include head ultrasound, C-T scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal shunt is placed relieving the pressure. Infants should also be monitored for foramen magnum compression. It is the opening at the base of the skull in which the brain stem and cervical spinal cord exit. When you have achondroplasia the foramen magnum is compressing the brain stem and spinal cord. Symptoms of narrowing include apnea the cessation of breathing and cervical myleopathy. C-T scans and MRI scans are done to examine the size of the infectious foramen magnum. A neurosurgical procedure called a foramen magnum decompression is executed to alarge foramen and alleviate further symptoms. Adolescents are at risk of getting lumbosacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nerosurgical symptoms. Initial symptoms including weakness, tingling, and pain of the legs. Pain usually alleviated by assuming a squatting position.
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.
It is estimated that 1 in 4 million newborn children are affected with this syndrome worldwide. It starts with the children suffering from scleroderma, which makes the skin appear scaly and thin. Within the first year there is a slowing in their growth rate and weight gain the physical development becomes stagnant, at two to three years of age their hair starts to fall out and they lose subcutaneous fat. The intelligence, and emotional development of children with progeria are on pare with children the same age but not affected by the syndrome (Hennekam, 2006 pp. 2603-2624).
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
2.Dietz. WH and Gortmacher, SL (1985) Pediatrics, 75,807-812; and Tucker, L.A. (1986) “Adolescent”, 21, 7970806.
The aim of this essay is a reflective account in which I will describe a newly acquired skill that I have learned and been able to implement within my role as a trainee assistant practitioner. (T.A.P.) for Foundation for Practice. I have chosen to reflect upon neurological observations on patients that will be at risk of neurological deterioration. Before I begin any care or assessments, I should have a good theoretical underpinned knowledge, of the skill that I am about to put into practice, and have a good understanding of anatomy and physiology, in order to make an accurate assessment of a patients neurological status. I will be making a correct and relevant assessment to identify any needs or concerns to establish the patient’s individualized care, and make observations to determine an appropriate clinical judgement.
Historically, the first attempt to explain aging from an evolutionary perspective was proposed as the “mutation accumulation” theory, which posits that the force of natural election decreases with age, allowing the accumulation of deleterious genes with age-specific effects on mortality rate. In other words, natural selection is quite effective at eliminating alleles that have deleterious effects early in life, but late in life its force diminishes; evolution allows the accumulation of deleterious alleles by a combination of mutation pressure and genetic drift, unopposed by natural selection (Rose 363-371). This idea, as sketchy as is was unsubstantiated, was further developed into “antagonistic pleiotropy” hypothesis, which basically argues that natural selection favors alleles that have aging as a side-effect, provided they had beneficial effect during youth - they exhibit pleiotropic, or opposite effects at different calendar ages, and senescence is basically a “maladaptive byproduct of selection for survival and reproduction during youth” (Fabian and Flatt).
There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females.
This is a genetic condition that is characterized by the dramatic, rapid appearance of aging beginning in childhood. Children with this condition more often have prominent eyes, thin lips, a thin nose, and protruding ears. Alopecia is also common and so is aged looking skin and joint abnormalities. Hardening of the arteries (arteriosclerosis) is also common. This increases the chances of having a heart attack or a stroke. This condition is rare and is reported to occur in 1 in 4 million newborns worldwide. This condition is diagnosed by genetic testing along with other physical examinations. This condition is caused by a mutation in the LMNA gene. The LMNA provides instructions for making proteins called lamin. This condition results in the production of an abnormal version of the lamin A protein. Because of this mutated protein, the nuclear envelope is unstable and the nucleus becomes progressively damaged. The average life expectancy for someone with this disease is approximately 13 years old. There is not a known cure for this disease, but medications and therapy can help alleviate
...f another patient, two year old Monthati Makofane. The child was “frightened” and “overwhelmed” , however, his parents were thrilled at the idea that their son would grow up and have what they deemed a “normal life”, submitting to the ideas of the medical perspective.
Down Syndrome Education Online -. Education online. 1996-2013. Web. The Web. The Web.
GSD I is a genetic disease resulting from the deficiency of the enzyme glucose-6-phosphate (G-6-P) and glucose-6-phosphate translocase (Andria et al). These particular enzymes are important in enabling the liver to produce glucose from glycogen and/or generate new glucose via gluconeogenesis. The inability of the liver to produce glucose from these metabolic pathways can result in severe hypoglycemia since the liver is responsible for maintaining blood glucose for the body in periods of fasting. The reduction of glycogen breakdown can also cause the kidneys and liver to become enlarged because excess glycogen is typically stored within these two organs. The liver and kidneys can typically function normally during childhood, however because of the increas...