Duane syndrome is a genetic disorder. This is an eye movement disorder. Duane syndrome is congenital, which means you are born with this genetic disorder. The cause of this genetic disorder is when the Lateral Rectus muscle does not work properly and eye muscles to contract when they shouldn’t and other eye muscles not to contract when they should. This happens during the third or eighth week of pregnancy. Although Duane syndrome develops during pregnancy, most are diagnosed at age ten. Only eighty percent of people with this genetic disorder has only one eye affected. It is about sixty percent of Duane syndrome patients are girls and about forty percent boy patients. There are many other names for this genetic disorder. That includes Duane’s
Duchenne's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles. " Muscular Dystrophy has no cure, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and while survival is rare beyond the early 30s, death is usually caused by a respiratory disease.
However, in a person with PWS, the 15th chromosome has been given 2 genes from the mother, and none from the father. This is called maternal UPD ( uni-parent disomy) in which 2 copies of the maternal chromosome are inherited with no paternal contribution. Despite the presence of 2 intact chromosomes, there is a functional abnormality in the imprinting that may lead to the absence of gene expression from the paternally donated chromosome, resulting in the PWS phenotype (physical trait) that is common in persons with PWS.
Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013). Hearing loss, abnormalities with pigmentation of hair, eyes, and skin and other minor defects are some symptoms of Waardenburg Syndrome. There are many ways to diagnose the disorder and many treatments of the symptoms of it as well.
The entire world is affected by this problem; this is because if this gets out of hand
In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome. Angelman syndrome is a neuro-genetic disorder that is usually diagnosed at a very young age, and it happens within 1 in every 15,000 births. Angelman syndrome have symptoms that can be easily mistaken with cerebral palsy or autism. Symptoms of the disorder include developmental delay, lack of speech, seizures, walking and balance disorders, sleep disturbances, hyperactivity, and frequent laughter or smiling. If a baby or child is diagnosed with Angelman syndrome they will require life-long care due to the fact that there is no cure. Due to having similarities with autism and cerebral palsy, Angelman syndrome is often misdiagnosed. Misdiagnoses are a prevalent problem today which can also lead to late diagnoses as well. When this happens, the lost time may cause inflicted individuals to lose opportunities for early intervention programs, life-altering treatments, resources, and customized personal support.
Cushing syndrome occurs when your body is exposed to high levels of the hormone cortisol for a long time. The most common cause of Cushing syndrome, sometimes called hypercortisolism, is the use of oral corticosteroid medication. The condition can also occur when your body makes too much cortisol. This can be caused by a variety of tumors cancerous and not; Ectopic ACTH Syndrome, Pituitary Adenomas, and Adrenal Tumors. Too much cortisol can cause many body symptoms including: a fatty hump between your shoulders, a rounded face, and pink or purple stretch marks on your skin. Other causes not seen on the body are: high blood pressure, bone loss and, on occasion, diabetes.
Human body is such an enigma. It is very fragile and there is not even a single person who did not fell sick in his lifetime. Some people suffer from minor flus and some have to undergo life-threatening surgeries. There are some who will have to take medicines all throughout their life and some face horrible treatments. But the most saddening thing is suffering from a disease that is so rare that only handful people know about it. It is such a bad luck that you are one in a million who is suffering from a weird disease.
Circumstance: Liam will be healthy and free from severe impairments from the diagnosed DisGeorge Syndrome. Ms. Smalls (MHP) made face to face contact with Wigfall (MHS) and Liam to review paperwork and therapy process.
Peutz-Jeghers Syndrome (PJS) is an autosomal-dominant inheritance condition that usually runs in families. Another name for this disorder is hereditary intestinal polyposis syndrome. PJS is a rare disorder and occurs in 1 in 160,000 to 1 in 280,000 persons. Peutz- Jeghers Syndrome is “caused by a change (mutation) in a gene that increases the risk for developing colon and other cancers.
Rickets is a bone disorder found in children that causes the bones to soften and weaken before the fusion of the growth plate. The adult version of this disease is called osteomalacia. In both adults and children it is caused by a long term and extreme vitamin D deficiency. Vitamin D allows for calcium and phosphorous to be absorbed from the gastrointestinal tract which is necessary for bones to have their mechanical properties. In children Rickets can result in bone pain, slow growth, increase risk of fractures and bone deformities, such as scoliosis, bowed legs, and thickening of the ankles, wrists, and knees.
Choice “E” is the best answer. This patient has Zollinger-Ellison Syndrome (ZES), which is caused by a gastrin-secreting tumor of the GI tract. The gastrin secretion in turn activates the ECL cells in the stomach. These cells release histamine which stimulates the parietal cells in producing acid. ZES can occur as a part of a genetic syndrome (MEN 1) or sporadically. The offending tumor is located in the duodenum, pancreas, or abdominal lymph nodes. Abdominal pain, heartburn and diarrhea are the most common symptoms in ZES patients. In patients in whom MEN1/ZES is suspected, a history indicative of kidney stones, elevated calcium levels(i.e., hyperparathyroidism), and pituitary disorders (i.e., adenomas) should be sought. The diagnosis of Zollinger–Ellison
Paget’s disease persistent condition by the normal bone remodeling process. The regular bone has a balance that makes it lay down new bone and take up the old bone. We are suppose to have a normal calcium level in our blood with the bone remodeling. Paget’s disease is affected mostly in older bones of adults. Don’t get me wrong Paget’s disease can be found in children which is called juvenile Paget’s disease. Another name for Paget’s disease is osteitis deformans.
Genes associated in Leigh’s Syndrome are involved in energy production in mitochondria (Leigh Syndrome.). The syndrome is known by the progressive loss of mental and movement abilities (Leigh Syndrome.). Leigh’s syndrome involves genetic mutations in mitochondrial DNA that interfere with energy sources that run cells in areas of the brain that play a role in motor movements (Leigh's Disease (Leigh's Syndrome)). Since Leigh’s Syndrome is a neurological disorder, it is characterized by the deterioration of the central nervous system (spinal cord, brain, etc.) (Leigh's Disease (Leigh's Syndrome)). The first signs of Leigh’s syndrome occur in infants: vomiting, diarrhea, and difficulty swallowing (Leigh Syndrome.). The symptoms, which rapidly progress, are caused by areas of damaged tissue (lesions) that develop in the brain (Leigh Syndrome.) In about 20-25% of people with Leigh’s syndrome it is inherited through mitochondrial pattern known as maternal inheritance (Leigh Syndrome.). Leigh’s Syndrome is inherited from the mother as a mutation found in mitochondrial DNA (mtDNA) (Leigh Syndrome | Disease). The mtDNA of the father is carried by sperm cells, but during fertilization it is lost. Therefore all of the mtDNA comes from the mother (Leigh Syndrome | Disease). A mother with Leigh’s disease will pass the traits to all of her children. However, only daughters will pass the mutation to the next generation (Leigh Syndrome | Disease). As children get older and the disease progresses, symptoms can include lack of muscle tone, generalized weakness, and episodes of lactic acidosis (Leigh's Disease (Leigh's Syndrome)). High levels of lactic acid in the brain and blood cause lactic acidosis (Leigh's Disease (Leigh's Syndrome)). Treatments for Leigh’s Syndrome include supportive therapies such as physical therapy and speech therapy (Leigh's Disease). To manage lactic
A family from the U.S.A. could not bare a child passed the age of six. The mother had a disease called leigh syndrome. This is a progressive neurological disorder that produces a loss of movement and mental function. Most children during childhood. Leigh syndrome has an extremely high mortality rate, but U.S. scientists found a way to cheat the facts. But is this “cheat” or risk beneficial, or concerning to society?