Canavan+Disease

Canavan Disease Overview: Canavan disease is a disease that progresses through a humans life which causes death and starts around the age of two. This disease mainly affects the nervous system. This causes the child to have a significantly enlarged head and causes the head the rapidly grow. This disease has no cure it causes anyone with this disease to die eventually. The life expectancy for people who have Canavan disease varies. You could live for a few years or you could prove many people wrong and live a long life. Children with this disease will not be able to crawl, walk, sit, or even talk. Some may later suffer from seizures, becoming paralyzed, developmentally delay or blindness and having a difficult time swallowing. (1). Signs and Symptoms: When you have canavan disease signs of the disease usually show up in the first 3-6 months of having it and after that you have it forever because there is no cure for this disease. Some of the symptoms are lack of motor development, feeding difficulties, abnormal muscle tone(weakness or stiffness), and abnormally large poorly controlled head.It is very rare, but some people with this disease might get paralysis, blindness, and hearing loss.(2). Genetics: Canavan is caused by a mutated recessive gene.(3) There are a not different types of Canavan disease, but the disease is sometimes referred to as aspartoaclyse deficiency, spongy degeneration of the brain,and Van Bogaert-Bertrand Spongy Degeneration of the brain. This disease is caused by an ASPA gene and is usually found in neurons in the brain.(4) Distribution: The presence of Canavan disease in the general population is unknown. Among people of Ashkenazi Jewish descent, the disease affects approximately 1 in 6,400 to 13,500 people, making 1 in every 40 to 58 Ashkenazi Jews a carrier. This is mostly in this group because Ashkenazi Jews only mate with people that are the same religion so if someone has it will spread throughout there whole type of religion. Because they are only mating with their own group the chances of mating with someone else that a carrier of this will cause a higher chance of their kid to have it. Management and Treatment: Because this disease causes the brain to break down and loosing brain cells and loss of connection between brain cells. This can not be cured but when it starts to flare up you ca go and help the pain or problem but you can't get rid of this. Management may include provision of sufficient amount of nutrition and hydration, treatment of infectious diseases, and protection of the airway. Miscellaneous: Canavan disease was first described in 1931 by Myyrtelle Canavan. The number of Jews who have Canavan disease right now is 6,400 to 13,500 people in Ashkenazi Jewish population.(5). Society and Culture: Society today hasn't really been very educated and expoised to many diseases such as Canavan disease. Therefore not many people have lots of opinions on this topic excpet that lots of people feel sorry and want to help in any way they can. It also is much harder for people with this disease to help around and do activities in society because they are delayed mentally and are usually paralyzed asking it hard to do everday tasks. Jewish people view this disease differently then other people because it is more common in Jews than many other religions. So in this case Jews are more open and accepting of other people with Canavan disease because they know what they have to go through everday.(6). History: This disease was named for Myrtelle Canavan who first described the order in 1931. She is one the first women to describe this disease and she is best known for her description of this disease. In 1993 Dr. Rueben Matalon discovered the gene that causes Canavan from tissues provided by several Canavan families. :media type="youtube" key="I7Cs6PL74Mc" height="315" width="560" **Further Research:** **[|https://ghr.nlm.nih.gov/condition/tay-sachs-disease]** This is tay sachs disease, it relates to this because they are both fatal to the child and none live past childhood. Also this affects the same type of people as Canavans disease, they both affect the Ashkenazi Jews. http://www.canavanfoundation.org/ Posted above is the website for a non-profit organization that was founded in 1992.

Refrences: Maeve Ciatations: 1) http://www.canavanfoundation.org/about_canavan_disease 2)https://www.medicinenet.com/canavan_disease/article.htm 3)“Canavan Disease.” NORD (National Organization for Rare Disorders), rarediseases.org/rare-diseases/canavan-disease/. 4)https://ulf.org/canavan-disease/ 5)healthresearchfunding.org 6)ninds.nih.gov James Citations: 3) https://www.counsyl.com/diseases/canavan-disease/ 4) https://rarediseases.info.nih.gov/diseases/5984/canavan-disease 5) https://www.ntsad.org/the-diseases/canavan