Essay On Krabbe Disease

Improved Essays
Krabbe Disease

According to the National Institute of Neurological Disorders and Stroke, “Krabbe Disease is a rare, inherited degenerative disease” (NINDS.nih.gov). It is diagnosed when a presence of globoid cells are found. Those are cells with more than one nucleus. A nucleus is like the brain of the cell where all the action happens. This disease breaks down the coating of nerve fibers or axons, those are called Myelin Sheath. This disease also breaks down brain cells which are imperative for everyday functioning and intelligence. This causes impairment of motor and mental skills. Krabbe disease is caused by a lack of an essential enzyme that myelin needs for metabolism, or its own energy. This enzyme is called galactocerebrosidase. This disease primarily affects infants and children but has been seen in adolescents and adults (NINDS.nih.gov).
Currently there are no cures for Krabbe Disease, but there have been medical trials on infants that have received blood that came from the umbilical cord that showed a slowing of their symptoms and a slight prolongation of their life expectancy. However, most infants, with Krabbe disease diagnosis results in mortality. Adults that are diagnosed usually have milder symptoms and a greater life expectancy, though Krabbe disease is less common during this age.
…show more content…
The Center of Disease Control, CDC, did not have any information regarding Krabbe Disease. The NINDS was easy to read, clearly formatted and easy to understand (NINDS.nih.gov). NINDS website is even equipped with a listening device that will read the text for you (NINDS.nih.gov). The NINDS website also includes organizations that support or give more information regarding Krabbe Disease. Those organizations share their physical address, phone number and websites

Related Documents

  • Superior Essays

    There is a gene called the HEXA gene that “provides instructions for making part of an enzyme called beta-hexosaminidase A” which is an integral part in the proper function of the brain and spinal cord (“Tay-Sachs Disease” 1). This enzyme lies within the lysosome, which “are structures in cells that break down toxic substances and act as recycling centers” and within the lysosome, the HEXA gene helps break down a “fatty substance called GM2 ganglioside” (“Tay-Sachs Disease” 1). Tay-Sachs then occurs when there is a mutation within the HEXA gene, which disturbs the process of the gene; when this happens the GM2 ganglioside rises to toxic levels especially in the neurons in the spinal cord and brain (“Tay-Sachs Disease” 2). This then causes all of the neurological and motor function issues that arise within someone who is afflicted by…

    • 2194 Words
    • 9 Pages
    Superior Essays
  • Improved Essays

    The Two Horrific Diseases Why are athletes being diagnosed with Amyotrophic Lateral Sclerosis or Chronic Traumatic Encephalopathy? This question is being asked by many athlete fans, parents and current players. Amyotrophic Lateral Sclerosis or ALS is an ongoing disease that affects nerve cells in the brain and the spinal cord. Which causes the person to lose control of the voluntary muscle atrophy. On the other hand, Chronic Traumatic Encephalopathy or CTE is a disease that gradually gets worse in the brain setoff by repetitive concussions.…

    • 758 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    surgeon can make a larger cut. Sometimes doctors can use special techniques that require smaller cuts for these biopsies. Once the lymph node is removed, a doctor will check to see if it has one of the types of tissue that is associated with Castleman’s disease, hyaline-vascular or plasma cell (Castleman's Disease). Affected Population Castleman’s disease is a rare disorder that can affect the male and female population equally.…

    • 603 Words
    • 3 Pages
    Improved Essays
  • Great Essays

    Some patients have a genetic predisposition to developing the disease. Other…

    • 1447 Words
    • 6 Pages
    Great Essays
  • Improved Essays

    The protein that was concluded was laforin isoform x4. The disease that is associated with this protein is myoclonic epilepsy of lafore (Genes and mapped n.d.). Lafora myoclonus epilepsy is a brain disorder which there is a reoccurrence of seizures (epilepsy) (Lafora progressive n.d.).This is used to explain the symptoms which include sudden episodes of involuntary twitching and muscle jerking that can affect only parts of the body or the body as a whole. This can occur while one’s body is resting and can be worsened by movement, enthusiasm, or by a flashing light (photos). In the later state of this disease, this can happen all of the time and affect the entire body without control (Lafora progressive n.d.).…

    • 393 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    For my essay I choose to write about rare genetic diseases from the nervous and skeletal systems. Though different systems, the nervous and skeletal system communicate well between each other. The skeletal system consist of all the bones in the body. The vertebrae and skull, both major parts of the skeletal system, house the 2 main structures of the nervous system: the spinal cord and brain. The vertebrae protects the spinal cord from injury while the skull protects the brain.…

    • 777 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Krabbe disease Brief description of the disorder: Krabbe disease, a rare genetic degenerative disorder of the central and peripheral nervous systems. It is initiated from a lack of galactocerebrosidase, a vital enzyme for myelin metabolism. This disease is one of a group of genetic disorders called the leukodystrophies, which affects the growth of development of the myelin sheath, the fatty substance that insulates and protects the nerves in the brain and spinal cord. The myelin sheath continues to develop after birth, with the growth rate peaking before 18 months of age. The myelin sheath is completely developed when a person is about 20 years old.…

    • 446 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Tay-Sachs Disease Analysis

    • 1415 Words
    • 6 Pages

    Tay-Sachs disease is a rare fatal genetic disorder, which occurs in children and characterized by progressive destruction of nerve cells in the brain and spinal cord. Children with Tay-Sachs are born with the absence of an important enzyme, hexosaminidase A (HEXA). This enzyme is found in lysosomes, where it breaks fatty acids called GM2 ganglioside. The absence of hexosaminidase A causes GM2 ganglioside to build up in nerve cells to toxic level, causing its damage and the symptoms of the disease appear.…

    • 1415 Words
    • 6 Pages
    Improved Essays
  • Improved Essays

    Tay Sachs Essay

    • 370 Words
    • 2 Pages

    Tay-Sachs is a disease that is usually found in young children, although there are rare juvenile and adult cases. Symptoms appear in seemingly healthy infants at approximately 3-6 months of age, it is always fatal. Primary symptoms include rapidly declining development, weakening of muscles and loss of motor skills. These are followed by increased startle reflex, blindness, deafness, and inability to swallow or chew, mental retardation, paralysis and dementia. This is followed by death at age 4 or 5.…

    • 370 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Castleman’s disease is a rare disorder that involves an overgrowth of cells in the body. Castleman’s disease can occur in a two types of forms which are (unicentric) or widespread (multicentric) form. This disease can affect anyone on the average age of people diagnosed with unicentric in their 30s. However most people with the multicentric are in their 50s and 60s. The multicentric form is also slightly more common in men than in women.…

    • 634 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    The “invisible bug” infestations are clinically known as the Ekbom Syndrome. Ekbom’s Syndrome is a mental disorder that a person believes that there is bugs in their skin, clothes and surroundings, which is why they call it the “invisible bug.” People with Ekbom Syndrome often develop purplish-blue, rounded and raw cuts from scratching because of the thought of bugs in their body. There is no actual founder of this disease, but it was named after Karl A. Ekbom, the Swedish neurologist who provided a definitive description of the condition in 1938. Some doctors describe this as a “rare” disorder.…

    • 515 Words
    • 3 Pages
    Improved Essays
  • Superior Essays

    Dementia is diagnosed by the presence of symptoms such as problems with memory, thinking, problem solving, language disturbances and psychological changes. Neurodegenerative changes within the brain, such as neuron death and a build-up of misplaced proteins are causal to the aforementioned symptoms. While an in depth understanding of the neurobiology of dementia has not been established, dementia diseases are characterized by the grade of neuron loss and the irreversible damage within the connections of the brain, combined with the resulting symptoms (Caberlotto and Nguyen, 2014). One of the most common forms of dementia, Alzheimer’s disease, occurs as a result of chemical and degenerative structural changes within the brain. Dementia can also be caused by a number of conditions such as vascular dementia following a stroke, fronto-temporal dementia caused by brain injury or Korsakoff’s syndrome, which is associated with long term excessive drinking.…

    • 1388 Words
    • 6 Pages
    Superior Essays
  • Improved Essays

    Chapter 18 Physical pathology is therefore the result of disease, not the cause. – Samuel Hahnemann The day finally came for my first surgery. I had waited over thirty years for this moment. I was about to go through a specialized surgery that is not generally known or accepted. I was out on the leading edge, ready and excited to see what would happen.…

    • 1062 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    Patients that have Korsakoff also have a cortical atrophy that the outer layers of the brain are wasting away. The Wernicke and Korsakoff Syndrome are commonly misdiagnosed because the signs of patients that suffer with it are often associated with other conditions. The symptoms of Wernicke & Korsakoff Syndrome is a confusion, loss of muscle coordination, problems with vision, memory problems inability to remember new memories, fabrication of events, loss of memory (Sullivan, E. V., & Fama, R. 2012). The lack of treatment will cause the steady progression of the syndrome to the point of life threating. It would better to start treatment before it gets too bad, the treatment consist of taking injects or taking of vitamin B1 into the body orally.…

    • 1151 Words
    • 5 Pages
    Improved Essays
  • Great Essays

    Human Immune Deficiency means to lack the defense mechanisms necessary to fight against simple viruses like the common cold. The virus attacks the helper T cells in the body and prevents them from simulating B cells to secrete antibodies. It also prevents helper T cells from activating CD8 cells that are cytotoxic T cells which are antiviral cells. (van Baarle et al) HIV carries single-stranded RNA that, when coupled with reverse transcriptase, creates HIV DNA. When HIV enters the body, it attaches and fuses with the host cell.…

    • 1063 Words
    • 4 Pages
    Great Essays

Related Topics