SarahPetroff_Unit6_SC235

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1 Case Studies in Neurology Sarah Petroff Purdue University Global SC235 Human Biology November 26, 2023
2 The role of the brain and spinal cord The brain and spinal cord play an important role in the reaction to pain. When Jamal burns his finger on the hot stove the nerves in his brain receive a signal from the sensory (afferent) neurons in his finger telling his brain that it is hurt, the motor (efferent) neurons carry the information from the brain and spinal cord to the effector which in this case is the muscle of the finger causing a contraction. The special neurons only found in the brain called interneurons will interpret the signals and decide the appropriate response. (Goodenough & McGuire, 2016). This is an involuntary reaction to painful stimuli. Nervous system evolution The evolution of the nervous system has been a literal life saver to the human race, as well as other species. The nervous system allowed early primates to respond to their environment. The need to withdraw from a threat, to explore the environment through a goal-oriented activity (the need for food etc). Over time the evolution of the nervous system the protective and discriminative sensations, special senses, movement and coordination were the foundation of new cognitive and motor behaviors that have allowed for further interactions with physical and social environments (Lichtneckert & Reichert, 2007). Had the nervous system not evolved there would be no internal response to the external stimuli meaning as a species there would be no connection between fear and the body’s action to protect itself. Congenital insensitivity to pain Congenital insensitivity to pain (CIP) is an extremely rare condition in which a person has the inability to feel pain, this is a defect from birth throughout life. People who have this condition also do not feel heat or inflammation.
3 Symptoms of CIP can happen differently depending on the age of the person affected. Infants and young children may have self-mutilating injuries, (biting off fingertips, loss of the tip of the tongue, and injury to the teeth and gums), cuts and bruises, reoccurring ear infections, and burns. Older individuals can experience fractures and joint damage without pain these can lead to bony deformities. (Schon et al., 2018). People with CIP have an inability to make a sodium channel, this is an issue. Without the sodium in the channel there is no conduction to the nerves telling the brain there is pain or heat. Without the nerves transmitting the information the person will not realize that there is pain associated with the action that is occurring. If Aaliyah had touched the burner as Jamal had her reaction would have been significantly different. Aaliyah would have not noticed the painful sensation or the heat. Her muscle would not have contracted to pull away from the stimuli. She would have likely had a severe burn. Advice to parents with children with CIP To advise parents of children who have CIP that wish to play contact sports my very first piece of advice would be not to let them play. There is too much potential for the child to be severely injured without any indication that there is an injury. If the child were to have a fracture or a break in a bone, they would not feel the pain, thus leading to joint damage, unhealed breaks, and possible infections. However, if the parent and child are insistent, I would suggest a major exam after each game that included an impact of any severity. There could be an unknown fracture, concussion, or internal injury. I would tell the parent to exercise extreme caution when the child is playing contact sports.
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4 Early Onset Parkinson’s Early onset Parkinson’s disease is when someone who is between the ages of 21-50 receives a diagnosis of Parkinson’s disease. This diagnosis is often overlooked as the typical patient who is diagnosed with Parkinson’s disease is typically over 60. Parkinson’s disease symptoms include dystonia (prolonged muscle contractions) that lead to abnormal postures, dyskinesia (involuntary, uncontrolled movements) ( Early-onset Parkinson’s disease, n.d). Parkinson’s disease is “a progressive debilitating disease caused by the death of dopamine-producing nerve cells in the movement control center of the brain” (Goodenough & McGuire, 2016). “While the symptoms of the disease are mostly the same at whatever age it develops, younger people will experience the disease differently due to their unique life circumstances” ( Early-onset Parkinson’s disease, n.d). As the dopamine producing neurons in the brains movement control center begin to die, dopamine levels begin to fall, this leads to subtle symptoms that are typically thought to be just normal aging. The person who is diagnosed with Parkinson’s will move slowly, typically they have a shuffling gait and a hunched posture and involuntary muscle contractions which lead to tremors of the hands or head or they may lead to rigidity of the muscles that cause a “freeze” in the middle of a movement (Goodenough & McGuire, 2016). Treatments for Parkinson’s disease There is no cure for Parkinson’s disease, but there are a few treatments. “To potentially delay dyskinesia, younger people may choose to postpone starting medication or begin with Parkinson's drugs other than levodopa, especially if symptoms are mild and don't interfere with work, physical or social activities. Options may be to start with an MAO-B inhibitor; amantadine; a dopamine agonist; or, when tremor is particularly prominent, an anticholinergic
5 drug” ( Early-onset Parkinson’s disease, n.d). There is no pill that can be given to assist with Parkinson’s disease symptoms as the blood-brain barrier prevents the dopamine from reaching the brain. Patients are given other medications that can reach the brain, L-dopa (amino acid which the brain can converts to dopamine and carbidopa), this treatment does not stop the steady decline in dopamine-producing neurons (Goodenough & McGuire, 2016). SNCA and Parkinson’s “SNCA makes the protein alpha-synuclein. In brain cells of individuals with Parkinson’s disease, this protein gathers in clumps called Lewy bodies. Mutations in the SNCA gene occur in early-onset Parkinson’s disease” ( The genetic link to Parkinson’s disease 2022).
6 References Early onset Parkinson’s disease: APDA . American Parkinson Disease Association. (2023, July 12). https://www.apdaparkinson.org/what-is-parkinsons/early-onset-parkinsons-disease/ Early-onset Parkinson’s disease . The Michael J. Fox Foundation for Parkinson’s Research | Parkinson’s Disease. (n.d.). https://www.michaeljfox.org/news/early-onset-parkinsons- disease Goodenough, J., & McGuire, B. A. (2016). Biology of Humans: Concepts, Applications, and Issues (6th ed.). Pearson Education (US). https://purdueuniversityglobal.vitalsource.com/books/9780134312996 Lichtneckert, R., & Reichert, H. (2007). Evolution of nervous systems . Evolution of Nervous Systems - an overview | ScienceDirect Topics. https://www.sciencedirect.com/topics/neuroscience/evolution-of-nervous- systems#:~:text=The%20evolution%20of%20nervous%20systems%20allowed %20primitive%20organisms%20to%20respond,development%20of%20goal%2Ddirected %20activities Schon KR, Parker APJ, Woods CG. Congenital Insensitivity to Pain Overview. 2018 Feb 8 [Updated 2020 Jun 11]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993- 2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK481553/ The genetic link to parkinson’s disease . Johns Hopkins Medicine. (2022, April 10). https://www.hopkinsmedicine.org/health/conditions-and-diseases/parkinsons-disease/the- genetic-link-to-parkinsons-disease#:~:text=Genes%20Linked%20to%20Parkinson’s %20Disease&text=Here%20are%20some%20of%20the,in%20early%2Donset %20Parkinson’s%20disease
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