Alternative Names • Spongy degeneration of the brain • Aspartoacylase deficiency • ACY2 deficiency • Aminoacylase 2 deficiency • Aspa deficiency • Asp deficiency • Canavan-Van Bogaert-Bertrand disease • Leukodystrophy, spongiform • Spongy degeneration of central nervous system • Asp deficiency • Canavan-Van Bogaert-Bertrand disease • Leukodystrophy, spongiform
How Common is This Disorder? • This can occur in people of all ethnic backgrounds • Most common in people of Ashkenazi (eastern and central European) Jewish heritage. • Studies show that this occurs in every 1 out of 6,400 to 13,500 people in the Ashkenazi Jewish population. • The incidence in other populations is unknown.
Causes? The lack of the enzyme, aspartoacylase, leads to a buildup of material called N-acetyl aspartic acid in the brain. This causes the white matter of the brain to break down or deteriorate. This disease is passed or in hearted through families. This disease is gene-linked disease but researchers have not yet figured out which gene it affects. This disease affects the nervous system as well as the brain.
Symptoms • Abnormal posture with flexed arms and straight legs • Backflow of food material into the nose (nasal regurgitation) • Feeding problems • Increasing head size (macrocephaly) • Irritability • Lack of head control when baby is pulled from a lying to a sitting position (head lag) • Poor muscle tone, especially of the neck muscles • Poor visual tracking or blindness • Reflux with vomiting • Seizures • Severe mental retardation • Swallowing difficulties
Symptoms Cont. • Symptoms usually begin in infancy • Infants typically begin a normal life and start to show symptoms at age 3 to 5 months • Delay in motor skills • Can’t hold head up • Can’t roll over • Weak muscle tone • Usually large head • Can be visible by just looking at a person.
How Common is This? • Around 1 in 6,400 or 0.02% or 42,500 people in USA have Canavan Disease. • In North America around 67,361 people have the disease. • In South America around 47,026 people have the disease. • In Europe around 122,304 people have the disease.
About the Disease • Canavan disease is very fatal. • Most people with the disorder don’t live past their adolescent years. • Some people make it to their young adult years but not many • Complications • May cause blindness • Inability to walk • Mental retardation
Treatment? • Treatment aims to ease the symptoms. • There is no treatment for Canavan Disease.
Testing for the Disease • Blood chemistry • CSF chemistry • Genetic testing for aspartoacylase gene mutations • Head CT scan • Head MRI scan • Urine chemistry • Diagnosis can be made when the child is an infant usually between the ages 3-5 months.
Support Groups Canavan Foundation450 West End Ave.New York, NY 10024Voice: 212-873-4640 or 1-877-422-6282Fax: 212-873-7892Website: http://www.canavanfoundation.orgE-mail: firstname.lastname@example.org Jacobscure.org Jacob's Cure Post Office Box 52Rye, New York 10580(914) 502-4249
Facts • When two carriers have a child together, there is a 1 in 4 chance the child will have Canavan. • Canavan disease is named for Myrtelle Canavan, who first described the disorder in 1931. • One of the earliest signs of Canavan Disease recognized by many parents is overall low muscle tone and lack of head control.
Works Cited "Canavan Disease - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 26 Jan. 2011. <http://ghr.nlm.nih.gov/condition/canavan-disease#treatment>. "Statistics by Country for Canavan Disease - WrongDiagnosis.com." Wrong Diagnosis. Web. 26 Jan. 2011. <http://www.wrongdiagnosis.com/c/canavan_disease/stats-country.htm>.