Many people have never heard of Adrenoleukodystrophy it is a disease that affects every 1 in 20,000 people from all races (Moser, AB HW, and KK Frayer). It is a disease that if not treated properly can possibly kill the child due to difficulties. Adrenoleukodystrophy is passes down from parents to their children as an X-linked trait. Since ALD is X-linked trait it mostly affects male, women can also carry the trait but it will remain dormant. If a woman has ALD she will only display a milder form of the disease unlike the male. ALD was first discovered by Ernst Siemerling and Hans Gerhard Creutzfeldt in 1923, but was never officially recognized until 1993. When ALD was first discovered it was called Siemerling- Creutzfeldt disease. Siemerling and Creutzfeldt describe it as “a rare, inherited, disorder that leads progressive brain disorders, failure of the adrenal glands and eventually death.”(The New York Times) ALD is a in a group of inherited disorders called leukodystrophys it is a group of disorders characterized by progressive degeneration of the white matter of the brain. (Leukodystrophys.) ALD has many different symptoms; some of the symptoms can be triggered as early as two years or as late as twelve but, the normal symptoms start between the ages of 4 to 10 and can include change in muscle tone, crossed eyes, decreased understanding of verbal communication, detoration of hand writing, difficulty at school, difficulty understanding spoken material, hearing loss, hyperactivity, progressive nervous system detoration, coma, decreased fine motor skills, seizures, and visual impairment or blindness(Lohr, DR. John T). If you recognize or detect any of these symptoms in your child you should immediately take them... ... middle of paper ... ...Parenting Siblings of Children with Disabilities. Parents.com. Web. 4 Dec. 2009. . 10. BARUCHIN, ALIYAH. "Health Guide." Easing the Seizures, and Stigma, of Epilepsy (09) 11. BARUCHIN, ALIYAH. "Health Guide." Easing the Seizures, and Stigma, of Epilepsy (09). Print. "Blindness." Http://www.massgeneral.org/children/adolescenthealth/articles/aa_blindness.aspx. 2009. Web. 12. Cooper, Dr. Jeffrey. "What is Strabismus?" Http://www.strabismus.org/strabismus_crossed_eyes.html. Optometrists network, 2001. Web. . 13. “Paralysis.” Health line. 05-09. Web. 07 Dec. 2009-12-06 http://www.healthline.com/galecontent/paralysis 14. “Lorenzo’s oil” http://en.wikipedia.org/wiki/Lorenzo's_oil
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
Congenital Adrenal Hyperplasia (CAH) is an inherited condition that affects hormone production in the adrenal gland. The individual lacks enzymes to make cortisol, and hormones are instead are shifted away to make other hormones, specifically androgens. This results in the deficiency of cortisol and the abundance of testosterone.
The article “Cracking the Alzheimer’s code” by Linda Marsa discusses the history, discoveries and advancements for Alzheimer’s disease. The discovery of Alzheimer’s disease was revealed through a German physician named Alois Alzheimer. Alzheimer first discovered Alzheimer’s in the year 1901 while he was interviewing a mentally Ill patient named Auguste Dexter. The beginning of his discovery was due to the fact that Dexter was exhibiting uncontrollable behaviors that included jealously, screaming, confusion and paranoia. After Dexter had passed away, Alzheimer saw this as an opportunity to examine her brain under a microscope in thin pieces. To Alzheimer’s surprise, he discovered two abnormal substances on brain slices that were called amyloid
As stated by the A.D.A.M Medical Encyclopedia, “ALS affects approximately 5 out of every 100,000 people worldwide” (Amyotrophic lateral sclerosis- National Library of Medicine, 2012). ALS is also known as amyotrophic lateral sclerosis. It is often called Lou Gehrig’s disease. The name derived from the famous New York Yankees player, Lou Gehrig, who lost his battle to ALS in 1941. Out of this tragedy came some light; ALS had the attention of the nation.
Addison’s disease is a disorder of the endocrine system. It is a hormonal disorder that can strike anyone, any gender at any age. Addison’s disease has also been called Adrenal Insufficiency (hypocortisolism) because the root of the disease is in the adrenal gland not producing enough of the hormone cortisol, or sometimes not enough of the hormone aldosterone to satisfy the body’s needs.
Amyotrophic Lateral Sclerosis (ALS) is a disease that affects the nerve cells in the brain and spinal cord, specifically the motor neurons. Motor neurons carry signals from the brain and spinal cord to all of the muscles in your body. When a person has ALS, they are not able to generate enough motor neurons, and the brain cannot then initiate and control muscle movement. After some time, when the disease gets progressively worse, the patient has difficulty speaking, swallowing, breathing, etc. These kinds of tasks are essential to the body, so when it gets to a certain point, the patient dies. There are several other names for this disease, such as Lou Gehrig’s disease, and Motor Neurone Disease (MND).
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
ADA-SCID, or bubble boy disease (“Gene Therapy for”), is a genetic hereditary disorder that affects one’s immune system (“Adenosine Deaminase”). The affected are deprived of basic immunity against viruses, fungi, bacteria and are also susceptible to serious infections that people with a normal functioning immune system do not get. Most victims of this disease are diagnosed in the first half of their lives and if not given proper treatment, the child will most probably not live more than 2 years (“Adenosine Deaminase”). The major symptoms of ADA-SCID are chronic diarrhea, rashes, setback development, pneumonia (“Adenosine Deaminase”), skin infections, respiratory system infections and digestive system infections (“Adenosine Deaminase (ADA)”). ADA is caused by the mutations seen in the ADA gene (“Adenosine Deaminase”), located on the 20th chromosome (“Adenosine Deaminase (ADA)”), which is in charge of creating the enzymes adenosine deaminase (or ADA) that is mostly operating in special white blood cells called lymphocytes.
Autism’s most obvious signs tend to appear between ages 2-3 years old. Autism spectrum disorder (ASD) is at neurological and developmental disorder that begins early in childhood and lasts throughout your life. The centers for disease and prevention (CDC) estimates autism's prevalence as 1 in 68 children in the United States. This includes 1 in 42 boys and 1 in 189 girls. An estimated 50,000 teens with autism become adults. Around one third of people with autism are nonverbal. Around one third of people with autism have an intellectual disability. Certain medical and mental health issues frequently accompany the autism. They include seizures,
Association, 2000) It is useful to study this disorder not only to learn to look for symptoms, but
Early symptoms of ALS are very slight and often overlooked. They begin as simple things, such as tripping or dropping things. Twitching or cramping of muscles and abnormal fatigue of the arms and legs may soon follow, causing difficulty in daily activities, such as walking or dressing. In more advanced stages, however, shortness of breath or difficulty in breathing and swallowing ensue, until the body is completely taken over by the disease. Intellect, eye motion, bladder function, and sensation are the only abilities spared.
In this day and age, it seems as though almost everyone has experience a loved one taken away form a very serious disease known as Alzheimer’s disease. Alzheimer’s disease is unbelievably devastating for everyone affected by it. This disease is causing major economical problems such as less occupancy in the nursing homes, and hospitals due to the rising population of elderly men and women being diagnosed with it everyday. Because there is not yet a cure for this disease and the percent of the population being diagnosed keeps rapidly rising, more time and money needs to go towards Alzheimer’s research.
Alzheimer's Disease Introduction to Alzheimer's Alzheimer's disease is a progressive, degenerative disease of the brain. It was first described by the German neuropathologist Alois Alzheimer (1864-1915). in 1905. This disease worsens with advancing age, although there is no evidence. that it is caused by the aging process.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
A German physician named Alois Alzheimer, who is a pioneer linked symptoms to microscopic brain changes. The first person he got to work with, to discover dementia, was a woman named Auguste D. He noticed that she had profound memory loss along with other worsening