https://padlet.com/amg0141/oc0ghkodpjkrcmn8 en-us 2021-10-04 22:53:06 UTC 2023-02-28 12:28:34 UTC hello@padlet.com amg0141 https://padlet.com/amg0141/oc0ghkodpjkrcmn8/wish/1791011738 All of the following disorders present seizures as a symptom. Seizures are sudden and uncontrolled electrical disturbances in the brain due to a number of possible factors. Signs and symptoms of seizures are temporary confusion, staring spell, uncontrollable jerking movements of the arms and legs, loss of consciousness or awareness, and cognitive or emotional symptoms. Seizures can be treated and managed with various medications, therapies, and electrical stimulation. 

Citation: 
Types of seizures. Johns Hopkins Medicine. [accessed 2021 Oct 5]. https://www.hopkinsmedicine.org/health/conditions-and-diseases/epilepsy/types-of-seizures ]]> 2021-10-04 22:55:18 UTC https://padlet.com/amg0141/oc0ghkodpjkrcmn8/wish/1791011738 amg0141 https://padlet.com/amg0141/oc0ghkodpjkrcmn8/wish/1791012381 - Trisomy 13 is present due to having three copies of chromosome 13. 
- Some signs and symptoms associated with Trisomy 13 are congenital heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, extra fingers and/or toes, cleft lip or palate, decreased muscle tone (hypotonia), and seizures. 
-According to Genetic and Rare Disease Information Center, Trisomy 13 occurs in approximately every one in 5,000 to 12,000 births. 
- Nondisjunction and random events during the formation of eggs or sperm can cause an extra copy of chromosome 13 to be present. 
-Trisomy 13 is not treatable so most treatment options are focused on symptom management. About 80% of children do not survive after the first month. 

Citation: 
Trisomy 13. Genetic and Rare Diseases Information Center. [accessed 2021 Oct 5]. https://rarediseases.info.nih.gov/diseases/7341/trisomy-13 ]]> 2021-10-04 22:55:50 UTC https://padlet.com/amg0141/oc0ghkodpjkrcmn8/wish/1791012381 amg0141 https://padlet.com/amg0141/oc0ghkodpjkrcmn8/wish/1791012738 - Cri du Chat occurs when a portion of the short arm of chromosome 5 is missing or deleted. 
- Some signs and symptoms are high-pitched crying during the first weeks of life, low birth weight, growth deficiencies, diminished muscle tone, microcephaly, facial deformities, motor, and intellectual disabilities, and seizures. 
- This disorder affects females more than males and occurrence range from 1 in every 15,000 to 50,000 live births.
- According to the National Organization of Rare Disease, most cases appear to have no known exact cause and occur randomly early in embryonic development. About 80-90% of deletions likely occur as part of sperm formation.
- Treatment such as speech and physical therapy is directed towards symptom management and some surgeries may be performed for a variety of symptoms. 

Citation: 
Cri Du Chat syndrome. 2017 Sep 14. Rare Disease Database. [accessed 2021 Oct 5]. https://rarediseases.org/rare-diseases/cri-du-chat-syndrome/ ]]> 2021-10-04 22:56:08 UTC https://padlet.com/amg0141/oc0ghkodpjkrcmn8/wish/1791012738 amg0141 https://padlet.com/amg0141/oc0ghkodpjkrcmn8/wish/1791013474 - MELAS is believed to be caused by mutations in tRNA genes 
- Some signs and symptoms are lactic acidoses, encephalopathy, myopathy, headache, strokes, and focal neurological deficits. Seizures in MELAS may be focal or generalized. 
- The occurrence of MELAS is estimated to be every one in 4000 births, affecting genders equally. 
- According to the National Center for Biotechnology Information, there is no known molecular mechanism for this disorder. 
-MELAS is not treatable but many symptom management exists such as the treatment of seizures with anti-epileptic medications, taking vitamins such as coenzyme Q10 or L-carnitine to help increase energy production, and taking L-arginine to attenuate the severity of symptoms when used in acute attacks. 

Citation:
Pia S. 2021 Jul 7. Melas syndrome. StatPearls [Internet]. [accessed 2021 Oct 5]. https://www.ncbi.nlm.nih.gov/books/NBK532959/ ]]> 2021-10-04 22:56:42 UTC https://padlet.com/amg0141/oc0ghkodpjkrcmn8/wish/1791013474 amg0141 https://padlet.com/amg0141/oc0ghkodpjkrcmn8/wish/1791014183 - Tay-Sachs Disease occurs when there is a deficiency of enzyme hexosaminidase A, resulting in excessive accumulation of gangliosides (lipid) in the brain and nerve cells. This accumulation leads to progressive dysfunction of the central nervous system.
- Some signs and symptoms are myoclonic jerks, acoustic hypersensitivity, cognitive and physical deterioration, the development of a macular “cherry red” spot, seizures, difficulty swallowing, loss of vision, paralysis, and progressive hearing loss.
- Approximately one in every 250-300 people are affected and males and females are affected equally.
- Tay-Sachs disease is caused by a mutation in the hexosaminidase subunit alpha (HEXA) gene. Inheriting two mutated copies causes deficiency of the hexosaminidase A enzyme, which is necessary to break down GM2-ganglioside within cells of the body.
- According to the National Organization of Rare Disease, there are no approved treatment options. While there is no treatment for this disease, many therapies are being developed and studied to help manage symptoms such as Gene therapy, Enzyme replacement therapy, Substrate reduction therapy, and Chaperone therapy. 

Citation: 
Tay Sachs disease. 2021 May 21. Rare Disease Database. [accessed 2021 Oct 5]. https://rarediseases.org/rare-diseases/tay-sachs-disease/ ]]> 2021-10-04 22:57:16 UTC https://padlet.com/amg0141/oc0ghkodpjkrcmn8/wish/1791014183