Friedreich’s ataxia
The Office of Rare Diseases of the National institute of health has identified
Friedreich’s ataxia as a very uncommon disease (). That is because in USA and worldwide this disease only affects 1-2 in 100,000 people (). It is estimated that there are 20,000 people who are affected by this disease in Europe and North America
().Patients with Friedreich’s ataxia have quite a short life span, but there is no way of predicting when they will die. Most patients will live 25-30 years, but there have some cases where patients survived till their 50’s and 60’s ().
In 1860 a German doctor named Nikoloaus Friedreich was observing four patients, he realized that all four patients could not write normally and had no reflexes in the legs. He also realized that the four patients had very poor coordination in the upper limbs and they seemed very damaged .At first Nikoloaus thought that this was just a case of multiple sclerosis or Hereditary ataxia, but the more research and observations he did. It was becoming more clear that this was a new disease (). Friedreich’s ataxia is a disease that affects the nervous system. This means the person diagnosed with this disease will have lots of issues with movement (). Not only does this disease affect the nervous system but it affects the peripheral nerves and the spinal cord causing it to weaken overtime. Surprisingly this disease does not affect the brain’s thinking or how the patient interprets something.
Friedreich’s ataxia is caused by a mutation in the FXN (frataxian) gene. The role of the FXN gene is to make proteins for muscles and skeletal muscles, the proteins are called Frataxin. In the FXN gene there is something called the GAA trinucleotide repeat (), GAA are DN...
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...ats way faster than a normal person. Tachycardia can increase the patient’s chances of getting a stroke or going into a cardiac arrest (). 10% of the patients will develop diabetes and 20% will end up having carbohydrate intolerance ().
A doctor can determine if you have Friedreich’s ataxia by doing series of exams, for example a physical exam. In the physical exam the doctor is observing if the patient seems off balance or have a hard time walking, lack of reflexes and problems in the nervous systems. Doctors will also take different scans to test to see if you have the disease. Scans like electromyogram (measures the activity level of muscle cells) and echocardiogram (position and motion of heart muscles) (). Sometimes blood tests can also be done, many blood tests doctors and nurses will do are to examine the high glucose levels and the vitamin E levels too ().
However, she began to develop balance difficulties. These difficulties began to escalate, Annie and her mother, Barbara, decided. to go to the Doctors. They find out that Annie has a severe condition. named Friedricks Attaxia in which your muscles waste away.
However it can also make room for medical, legal and ethical dilemmas. Advances in medical technology enable individuals to delay the inevitable fate of death, overcome cancer, diabetes, and various traumatic injuries. Our advances in medical technologies now allow these individuals to do things on their own terms. The “terminally ill” state is described as having an incurable or irreversible condition that has a high probability of causing death within a relatively short time with or without treatment (Guest, p.3, 1998). A wide range of degenerative diseases can fall into either category, ranging from, HIV/AIDS, Alzheimer’s disease and many forms of cancer. This control, however, lays assistance, whether direct or indirect, from a
Histological examination shows severe degeneration of Purkinje cells, reduction in the number of cells in the molecular and granular layers of the cerebellar cortex, severe loss of the number of cells in the pontine nuclei and olives, and demyelination of the middle cerebellar peduncle. The cerebellar nuclei are well preserved. The tegmentum of the pons, the corticospinal tracts, and the restiform body are also usually unaffected. In clinical cases involving extrapyramidal symptoms, degenerative changes in the striatum, espec...
on the account of ancient Indian texts relating to the Ayurveda medical system which identified the disease as Kampavata. Many others have identified Parkinson’s throughout time as either the “shaking palsy” or its Latin form “paralysis agitans” (Abramovitz, 10). People such as Middle Age physician Galen in 175 AD and widely known Leonardo Da Vinci all picked up on the presence of Parkinson’s Disease before it’s official description was written in 1817 in
for thousands of years. There is no cure for parkinsons disease but there is treatment as ell as
In 2010, Keeley released a review that says if patient’s have a terminal illness, up to 88% will ex...
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
Amyotrophic lateral sclerosis, or ALS, is a degenerative disease affecting the human nervous system. It is a deadly disease that cripples and kills its victims due to a breakdown in the body’s motor neurons. Motor neurons are nerve cells in the brainstem and spinal cord that control muscle contractions. In ALS, these neurons deteriorate to a point that all movement, including breathing, halts. Muscle weakness first develops in the muscles of body parts distant from the brain, such as the hands, and subsequently spreads through other muscle groups closer to the brain. Such early symptoms as this, however, can hardly be noticed.
Imagine if you loss control of your body but your mind stayed unaffected. You would be a prisoner in your own body, all leading up to your death sentence. That is the sad fate for the people diagnosed with Amyotrophic lateral sclerosis (ALS). “Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder was first described by Ran in 1850. This description was then expanded in 1873 by Charcot, who emphasized the involvement of the corticospinal tracts. In the United States, ALS is often referred to as Lou Gehrig's disease, after the famous ball player who was stricken by the disease in the midst of his career. (Yale School of Medicine, 2014)” In this paper will go through the definition, the process, the signs, the risk factors, etiology, and discus the known people that have suffered with this terminal disease.
and ten years, but some patients today can live up to 15 years due to
Parkinson’s disease, a chronic, progressive, and neurodegenerative brain disorder affecting body movement, known to have no cure, yet has treatments that will help in managing the disease. This disease is named after James Parkinson, an English physician who described this illness. Approximately one million people in the United States are diagnosed with Parkinson’s disease (What is Parkinson’s, n.d.). This disease is identified to be slow in progression and symptoms of this will only worsen as time goes on. Parkinson’s is the second most common neurodegenerative disease (Simpson, Murray, & Eccles, 2010).
Clinical diagnosis of PD is currently solely dependent on the presentation of the symptoms by the patient which reflect a deficiency of striatal dopamine caused by the destruction of the cells in the substantia nigra. Imaging and other laboratory techniques can be used to rule out other disorders, but are not necessary for the actual diagnosis of PD. The first sign of PA is usually bradykinesia. Movements are usually quite slow. Routine activities may require deliberate planning and thought for execution. Difficulty initiating movements or akinesia, may also be present. Rigidity in the flexors is also present. This is due to an exaggerated response to normal proprioceptive return from the somatic musculature. A resting tremor of 3-6 Hz is also a prominent feature of PD. This may cause difficulties in handwriting as a symptom. Impaired postural reflexes is also a presenting feature in PD. Patients can easily lose their balance when pushed slightly, and may need to be caught to keep from falling. These signs can be tested by observing the patients walking, getting out of deep chairs, and performing rapid repetitive movements. Increased disturbances in cognitive abilities can also show evidence of PD. Even with all these signs of PD, it may be present and undiagnosed f...
...agnosed at a later stage, most people die within two years of diagnosis and treatment.
There are many other instances of disabilities or diseases that can cause disadvantages in life. Goering lists deafness and color-blindness, but I think that paralysis should also be included in thi...
disease that Stephen Hawking has) 5 years ago. This is a condition that destroys motor nerves, making control of movement impossible, while the mind is virtually unaffected. People with motor neurone disease normally die within 4 years of diagnosis from suffocation due to the inability of the inspiratory muscles to contract. The woman's condition has steadily declined. She is not expected to live through the month, and is worried about the pain that she will face in her final hours. She asks her doctor to give her diamorphine for pain if she begins to suffocate or choke. This will lessen her pain, but it will also hasten her death. About a week later, she falls very ill, and is having trouble breathing.