Adrenoleukodystrophy, also known as ALD, is a deadly genetic disease that affects mainly boys and men. There are three types of ALD. There is the Childhood cerebral type, Adrenomyelopathy, and Adrenal gland failure (Addison’s disease). Childhood cerebral type appears in mid childhood between the ages 4-8 years old. It is the most common form of ALD. It is an X-linked disorder that is passed down from mother to child. The child affected will become completely dependent on the family and death may occur within 2 to 5 years from diagnosis. Body Structure Affected: There are three body structures affected in this form of ALD. The nervous system, adrenal glands, and testes are affected. The nervous system’s normal function is responsible for sending, …show more content…
ALD can be a difficult disease to diagnose because the symptoms are similar to other diseases. Several tests will take place, but first the doctor will review the patient’s symptoms and their medical family history. After that, the tests are blood testing, magnetic resonance imaging(MRI), a vision screening, and a skin biopsy and fibroblast cell culture. The blood testing is to allow the doctor to check for high levels of very-long-chain fatty acids (VLCFA) in a patient’s blood. The blood samples will allow genetic testing to identify mutations that can cause ALD. It will also be able to evaluate how well your adrenal glands are working. The MRI will let doctors detect the abnormalities in the brain that are caused by ALD. The abnormalities the doctors will look for is damage to the nerve tissue (white matter) of the …show more content…
Each type of ALD can have different treatments. In the childhood cerebral form there is Lorenzo’s Oil, Stem Cell Transplantation, and Medication. Not only does it depend on the type of ALD the person has, it also depends on the severity of the disease. Lorenzo’s Oil was developed by Augusto Odone and Michaela Odone. They developed it with a combination of two fats that were extracted from olive oil and rapeseed oil. These mixtures of fatty acids can reduce the levels of very long chain fatty acids. In recent studies, it has shown that Lorenzo’s Oil can be effective because it stops the symptoms in boys with the disease who have not become symptomatic. Lorenzo’s Oil is considered an experimental drug because it has not been approved by the Food and Drug Administration. Lorenzo’s Oil is not proven to be 100%
Diabetes Mellitus can be diagnosed through blood work. Blood is drawn from the patient and tested.
ACH, is an interesting disease, one that after many years of research still remains a partial mystery. The fact that a single nucleotide on one chromosome can so greatly affect an individual is astounding, especially coupled with the fact that this mutation is so homogenious in genotype and phenotype. With more skeletal dysplasias being connected to FGFR3, research has increased to fully determine and define the pathways involved with this gene. Determining the reason for such a high mutation frequency and the link to paternal age are also being looked into. Once there is more understanding of how this mutation affects the body, treatments and possibly cures can be found for these individuals.
There is no cure for ALS at this time and treatment is focused on management of the symptoms, involving a combination of physical therapy, occupational therapy, and speech, respiratory, and nutritional therapies. Moderate exercise may help maintain muscle strength and function. Drugs can also treat excessive saliva and drooling, and speech therapy can help compensate for loss of muscular control of the mouth. As the disease progresses and muscular degeneration spreads throughout the body, various devices may provide support, such as ankle braces, neck collars, reclining chairs, wheelchairs, and hospital beds. Respiratory support and feeding tubes are required when the person loses cont...
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.
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.
Cushing syndrome was named after Harvey Cushing in 1912. “Harvey Cushing first described the symptom complex of obesity, diabetes, hirsutism, and adrenal hyperplasia. He gave a vivid description of his first patient who was 23 years old and presented with the “most extraordinary appearance”” (“Osler’s phenomenon”: misdiagnosing Cushing’s syndrome; Postgraduate Medical Journal; October 2003). Although, Sir William Osier was the first to describe the symptoms of Cushing’s, but diagnosed his patient with myxoedema by mistake. Unfortunately many people were misdiagnosed, therefore, leading to mortality. In 1933, Cushing performed his first neurosurgery on his patient, which did not gain acceptance until much later. “Adrenal surgery was for many years the treatment of hypercorticism but prior to the availability of glucocorticosteroids substitution an extremely perilous undertaking” (Cushing’s syndrome: Historical Aspects, Lindholm J., October 2000).
is a hereditary predisposition to this disorder. Also, the way a child is raised can greatly increase
Doctors need a sure way to diagnose the disease before treatment or studies can be done. The diagnosis is an autopsy of brain tissue examined under a microscope. In addition, medical history, a physical exam, and mental status tests are used for diagnosis (Posen, 1995). Often, tests are done to rule out other potential causes of the dementia. This allows the identification of other causes of thinking and behavioral changes to be made before concluding that the patient has Alzheimer’s or another form of dementia. The tests that are requested to be done include CT and MRI scans to rule out strokes or brain tumors which could account for change in memory and behavior; thyroid and psychological tests which can also detect thinking and behavior problems (Posen, 1995).
One major reason ALS is such a frightening disease is because no cure has been established. Although no effective treatment has been developed, a number of drug trials have been conducted, and there are some devices designed to help ALS patients maintain independence as well as safety as the disease progresses.
This form of testing is used for determining if an individual is inebriated or not. James and Nordby (2009) stated that an equilibrium exists between alcohol in the bloodstream and alcohol in the lung such that, on average, the concentration of blood alcohol is 2100 times greater than the concentration of breath alcohol (p. 63). Since this equilibrium exists, one can measure the breath alcohol and infer the corresponding alcohol concentration in the bloodstream (James & Nordby, 2009 p. 63). An advantage of this form of testing is that it can be conducted without drawing a blood sample and testing it. This allows personnel such as police officers to test individuals on the spot versus having to take someone in and draw a blood sample and wait for results to come
For example if the liver is damaged or diseased then some of its enzymes will leak into the bloodstream. A blood test will check for this and give the doctor an idea as to what has happened.
A myth about Alzheimer disease says that nothing can be done about the disease. This is not true. Much can be done to assist the person with Alzheimer’s disease to maintain the highest possible level of functioning as long as possible and in providing the highest quality of life.
Magnetic Resonance Imaging (MRI) has been around since the 1930s. An MRI machine has a great purpose in the medical field. It is a radiology technique that uses magnetism, radio waves, and a computer to produce images of body structures, such as a patient’s head, chest, blood vessels, bones and joints, and much more. MRI machines help doctors figure out what is wrong with their patient's bodies. It allows doctors to take a closer look at a certain location and see things that other machines cannot see. By using this machine, it helps doctors figure out the problem faster and allows them to try and find a treatment or a cure.
Duchenne: most common form of the disease. This for is found to be genetic. This is form is passed on through the mother who is a carrier or family has a history of the disease. Symptoms start about the ages of 2 to 6 and by the time the child is about the ages of 10 to 12 the child would be in a wheel chair.
They test many types of samples in the lab such as skin or body fluids like blood and urine. Lab techs have the responsibility to not only perform the test but to record the results and get the results where they need to be. Blood tests can indicate many different conditions such as a hormone imbalance or blood type. This is very important because if someone receives a blood type that is not compatible with their own blood, the patient could die. Skin and tissue samples can also lead to a diagnosis. They can run tests to see if a sample reacts to something or doesn’t react to something. This is how the lab tech helps to diagnose.