Friedreich's Ataxia Research Paper

ALS (Amyotrophic Lateral Sclerosis) or Lou Gehrig’s Disease is a classified as a degenerative neurological disorder that inhibits motor neurons in the spinal cord and brain to function properly. This disease eventually results in paralysis and imminent death over a period of time. ALS patients have anywhere from a few months, to a couple years to live after diagnosis since their nervous systems are slowly destroyed, rendering the body useless, and sustaining life impossible.

What is survival? The book Gabe & Izzy by Gabrielle Ford with Sarah Thomson is a perfect example of survival! Survival means to live or exist in spite of an accident, ordeal, or difficult circumstances. In this book Gabe survives a diagnosis of Friedreich’s Ataxia, which causes her to be bullied everyday at school. She also experiences the death of her dog and best friend, Izzy.

Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.

ALS stands for Amyotrophic Lateral Sclerosis, and is also referred to as Lou Gehrig’s disease. After this disease is contracted, it weakens skeletal muscles and the body is eventually paralyzed. In some cases, ALS affects the limbs first, causing difficulty to move. Due to being a progressive condition, patients will suffer from many different symptoms as time goes by. After being diagnosed, only about fifty percent of patients live for at least two more years (Facts You Should Know 2010). Moreover, about twenty percent live five years after being diagnosed and only ten percent of people can expect to live for over ten years after the diagnosis (NINDS 2013). This being said, ALS is typically very rare. Approximately two out of one hundred

Dr. Janniger, a Pediatrician at Rutgers New Jersey Medical School asserts that elevated AFP is the most constant marker for Ataxia-Telangiectasia (2007). Normally, AFP is a fetal protein made in a fetus’s liver and should drop off near or within a year of birth (Blaese, Stiehm, Bonilla, & Younger, 2013). This AFP level is elevated in 95% of patients with AT, after age 18-24 months (Blaese et al., 2013). Additionally, an MRI (magnetic resonance imaging) of the cerebellum or chest would be indicative of AT by about the age of 10; cerebral white matter demyelination and microhemorrhages would be evident (Janniger, 2017). The cerebellum would have also lost much of its volume (Chun & Gatti, 2004). Tavani describes the MRI of 19 patients on AT and correlate the appearance of these scans with the degree of neurologic deficit, the timing of which can be crucial in determining life expectancy or if an alternative diagnosis is needed (Tavani, Zimmerman, Berry, Sullivan, Gatti, &Binghmam, 2003). The team found there was a noted progression of cerebellar atrophy from the lateral areas to the superior areas over time (Tavani et al., 2003). Other laboratory findings, in addition to elevated AFP and diagnostic MRI scans, include immunological deficiencies such as low T cell levels, low IgA, IgE, and IgG, chromosomal aberrations, sensitivity to radiation, defects of cell cycle checkpoints,

ALS is one of the most common neuromuscular diseases worldwide (Amyotrophic Lateral Sclerosis Fact Sheet).There are three different types of ALS causes there is, familial, sporadic, and guamanian. Familial is 5-10% , sporadic is the most common which is 90-95% of all ALS causes and guamanian is rare variant. Guamanian is very similar to ALS almost the same and it happens because of something toxic that they are eating which messes with their nervous system (ALS[Lou Gehrig’s Disease]). It is also a disease varied with etiology characterized by rapidly progressive in weakness in the muscles.

present in a significant subset of ALS patients but also in some patients who suffer from a type of

Beginning with the primary article, it gives you very detailed information on Friedreich’s Ataxia. This is the type of disorder that worsens over time. Friedreich’s Ataxia is a crippling disease that is caused due to overload on iron (Richardson, et al, 2001). The process of the disease goes into the

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurological disorder that destroy nerve cells causing death of motor neuron cells in the brain and spinal cord controlling voluntary muscle movements. It is considered a rare disease as only two out of 100,000 in a general population can develop it and there are approximately 20,000 to 30,000 cases in the United States (Miller et al 2004). It has also been shown that the disease affect men more than it does women with a ratio of three to two (Kiernan et al 2011).

One major sign of MD is muscle weakness. There are many impacts on life for people who have MD, from an early age, they might have trouble walking, running and jumping, and may need a wheelchair along with swallowing problems, if those muscles are altered by the disease. They can possibly have heart

Amyotrophic lateral sclerosis is commonly referred to as ALS. This disease is also known to many as Lou Gehrig’s disease. ALS is a disease characterized by the slow death of certain nerve cells in the brain and spine. As described by research done through the Mayo Clinic, nerve cells called motor neurons control the muscles that allow you to move muscles of your body. ALS effects these particular neurons and produce serious neurological effects that can start as muscle weakness that eventually leads to disability and then to death. For some people diagnosed with ALS they may find it difficult to walk, talk, eat food, swallow, and even breathe. These problems can, and will lead to injury, illness, and eventually death. For most people who suffer with ALS, death will occur within three to five years after the first symptoms begin; some people may live for many years beyond that.

Have you ever wondered what Lou Gehrig disease is? If there is a cure for ALS or how many people have/had it. If so, then this article is for you. In this article I am going to be answering those questions and many more you might have. And in my opinion ALS is a negative mutation. Lou Gehrig disease (ALS) is a rare disease that takes place in the brain and spinal cord. A.L.S. affects the nerve cells. To be more specific in the motor neurons, which take place all through the body. When motor neurons die, which is what happens with this disease, the person that has it would lose brain functionality and muscle movement loss. With voluntary muscle affected the patient will be paralyzed only 2 people for every 100,000 are diagnosed with ALS. It is called Lou Gehrig disease because it is named after the famous Lou Gehrig, which was the first one to have ALS. The cause of this mutation is not yet discovered, but studies show that 90% of A.L.S is not inherited from other family members. This means it can’t only be passed down and there is an outside source. The symptoms of A.L.S. are hard time walking, weakness in legs, hand weakness, problems with speech, trouble swallowing, muscle cramps, twitching in the arms, bad posture.

Fabry disease is a multisystemic disease with non-specific initial manifestations. Neuropathic pain and acroparesthesia are one of the earliest symptoms, already reported in childhood or adolescence. Later signs and symptoms involve the heart, kidney and the brain and often lead to life-threatening complications such as cardiac and renal failure as well as cerebral strokes. Early therapy initiation can benefit the

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects the brain and spinal cord nerve cells. The degeneration of these neurons result in their death, which prevents the brain from initiating voluntary muscle movement. Patients may not experience the same symptoms throughout the phases, early symptoms include difficulties swallowing, breathing, speaking, and increasing muscle weakness. Muscle atrophy occurs and paralysis may result in the later stages of the disease. The cause of ALS is unknown and although there is no cure, current treatment can halt the progression or possibly reverse it (ALS Association, 2010). Many people do not think twice about the early signs and symptoms of ALS, as the disorder progresses, the signs and symptoms can mimic other illnesses. Early signs usually begin in the upper and lower extremities. The patient appears to be clumsy. As ALS progresses, all voluntary muscle movements will be affected. The patient will have difficulty speaking, chewing, swallowing, breathing, and holding their head up. The average person lives 3 to 5 years after diagnosis, death of the motor neurons lead to death of the patient (Mayo Clinic, 2015). ALS is seen more in men than in women and more in Caucasian’s than any other race. Most patients are diagnosed between the ages of 40 and 75 (CDC, 2014).

Amyotrophic Lateral Sclerosis, more commonly know as ALS or “Lou Gehrig's Disease”, affects the nerves in the brain and the spinal cord. ALS is a disease of the nerve cells in the brain and in the spinal cord that control muscle movement. Over 5,600 people in the United States are diagnosed with ALS a year and about 30,000 Americans have ALS at a time. Some symptoms or signs of ALS are people’s arms and legs beginning to lose strength and muscles could become tight. Also, feet and ankles may develop weakness. General fatigue may develop and some muscles, like tongues, may twitch. Additionally, swallowing, speaking, and breathing may become harder to do. People with ALS may have slow eye movements and their