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Symptoms of the most common (and most serious) form of Canavan disease typically appear in early infancy usually between the first three to six months of age. [4] Canavan disease then progresses rapidly from that stage, with typical cases involving intellectual disability, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., initial floppiness ...
The plaintiffs in this case were a group of parents of children who had Canavan disease and three non-profit organizations who developed a confidential Canavan disease registry and database. [1] The parents provided their children's tissue for research on the disease and the non-profit groups aided in the identification of other affected ...
Canavan disease is a less-studied type of leukodystrophy that, like MLD and Krabbe disease, is also inherited in an autosomal recessive pattern. It is due to a mutation in the ASPA gene that encodes aspartoacylase , an enzyme needed to metabolize N-acetyl-L-aspartate (NAA).
Myrtelle May Moore Canavan [1] (June 24, 1879 – August 4, 1953) was an American physician and medical researcher. She was one of the first female pathologists and is best known for publishing a description of Canavan disease in 1931.
Anastacia “Tasha” Quingquing is a woman diagnosed with Congenital Insensitivity to Pain, a rare congenital disease that makes her incapable of feeling physical pain and pleasure. [5] She works in a pharmaceutical company and asks her friends, Eric and Au, to go to a vacation but they have a lot of excuses that make them unavailable for the ...
Medical Investigation is an American medical drama television series that began September 9, 2004, on NBC.It ran for 20 one-hour episodes before its cancellation on March 25, 2005.
Fern Kupfer. Fern Lee Kupfer is an American author and retired professor of creative writing at Iowa State University.She has written several novels and as well as memoirs reflecting on her life experiences, the discovery that she is a carrier of the BRCA gene, and the loss of her son to Canavan disease.
Subacute sclerosing panencephalitis (SSPE), also known as Dawson disease, is a rare form of progressive brain inflammation caused by a persistent infection with the measles virus. The condition primarily affects children, teens, and young adults. It has been estimated that about 2 in 10,000 people who get measles will eventually develop SSPE. [1]