Download Nystagmus

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