Alexander Syndrome (a.k.a. AxD) Alexander Rasmussen

Description Alexander Syndrome is an extremely rare disorder that causes mental and physical degeneration. Type of disorder: Genetic Type of mutation: It was discovered by William S. Alexander in the 20th century. Variations: There are 3 Infantile, Juvenile, Adult

Physical effects on the body (symptoms) Mental and physical retardation Dementia Enlarged brain and skull Stiffness in the arms and/ or legs Seizures Difficulty swallowing Coordination problems Delayed physical development Speech abnormalities Hydrocephalus Bulbar palsy Ataxia

Pathology Alexander Syndrome is passed on genetically from a parent with the disease to it’s offspring. It is displayed on the 17th chromosome at the point 17q21.

Diagnosis, Treatment, and Statistics done when symptoms start to appear around six months of age. Treatment: There is no available treatment or cure at this time. Stats: Less than 500 cases have been reported. Average life expectancy does not exceed the first ten years of life.

Bibliography http://www.wrongdiagnosis.com/a/Alexander Syndrome http://www.ulf.org/types/Alexander.html http://ghr.nlm.nih.gov/dynamicImages/chromomap/brca1.jpeg Enersen, Ole Daniel. "Alexander's syndrome (William Stewart Alexander)." Who Named It?. 1994-2009. Web. 9 Nov 2009. http://www.whonamedit.com/synd.cfm/159.html