Canavan Disease

GENERAL INFORMATION

• Affects autosomal chromosome.
• Affects ASPA(Aspartoacylase) gene in chromosome #17.
• The ASPA gene is responsible for instructions of making an acid that is necessary to create new proteins.
• Both copies of the genes in each cell from both parents have mutations.
• It is inherited.
• It is also called Aspartoacylase Deficiency.

Nature of the Disorder

• Symptoms/Challenges: Trouble balancing, trouble eating, a large head, may cause blindness, may suffer seizures, may become paralyzed, sleep disturbances, trouble swallowing, cannot walk, sit, or talk, mental health problems, eyesight deficiency.
• Affects more German and Eastern European people with Jewish ancestry.
• Many do not live past age 10.
• 1 in 40 German and Eastern European people with Jewish ancestry are carriers of the disease.

Treatments

• There is no known treatment or cure.
• They are focusing on symptom control for the future. They are looking into introducing healthy ASPA genes into their brain to help produce the ASPA enzyme.
• There are prenatal tests: Genetic testing, blood testing, & DNA linkage analysis(DNA testing).

Works Cited

• http://www.canavanfoundation.org/about_canavan_disease
• http://ghr.nlm.nih.gov/gene/ASPA
• https://prezi.com/s6f2yrcgr6wa/canavan-syndrome/