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Speilmeyer-Vogt Disease :A rare genetic condition, that is categorized in a group of progressive degenerative nurometobolic disorders. It is characterized by abnormal accumulation fatty substances within nerve cells of the brain as well as other tissues of the body that may result in progressive deterioration of certain areas of the brain and leads to neurological impairments. • Forms of the Disease – Juvinile Onset: Most commonly referred to as Batten Disease and usually becomes apparent between 5 and 15 years of age. • Symptoms include… – – – – – – – – – – – – Progressive loss of vision Repetitive speech Clumsiness and balance problems Behavioral or personality changes Seizures Progressive neurological degeneration Poor circulation in the lower extremities (legs and feet) Decreased body fat and muscle mass Curvature of the spine Hyperventilation and or breathholding spells Teeth grinding Constipation • Inheritance, Diagnosis & Treatments: – – The disease is inherited and the diagnosis is based on the presence of certain proteins and fats deposits in skin samples. As of July 2010, there are six genes that have been identified that cause batten disease in children or adults. See Illustration below… In 2006 Clinical trials using stem cells directly transplanted into several areas of the brain were well received by the patients but disease continued on normal course. Batten disease has an autosomal recessive pattern of inheritance Spielmeyer Vogt Disease also known as…Batten Disease • Developed by Emily Diaz – References Wikipedia. (2010, May 21). Batten Disease. Retrieved July 5, 2010, from http://en.wikipedia.org/wiki/batten_disease National Organization for Rare Disorders. (n.d.). Batten Disease. Retrieved July 5, 2010, from http://www.everettclinic.com/kbase/nord/nord259.htm Selected Anomalies and Diseases of the Eye. (1990). Spielmeyer Vogt Disease. Retrieved July 5, 2010, from http://www.tsbvi.edu/education/anomalies/nystagmus. htm NYU Langone Medical Center. (2010). Batten Disease. Retrieved July 5, 2010, from http://www.med.nyu.edu/patientcare/library/article/batten.html National Institute of Neurological Disorders and Stroke. (2010, May). Batten Disease Fact Sheet. Retrieved July 5, 2010, from http://www.ninds.nih.gov/disorders/batten/detail_batten.htm