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Batten Disease is an inherited neurodegenerative disorder that attacks children. Brain and spinal cord cells deteriorate and malfunction, eventually leading to cell death. This has a devastating effect on the child's muscle control (ataxia), cognitive ability, and the processing of sensory information.
Symptoms will begin to appear in afflicted children between the ages of four and ten years. Usually the child will start having problems with their vision and may begin to experience seizures. Personality and behavior changes may begin to emerge.
The child may become clumsy, due to poor motor control and loss of coordination. They may have trouble sleeping, and in their ability to speak. Mental impairment and wasting away of brain tissue results in diminished learning capacity or regression.
Their body movements may become rigid or stiff, and slow. Posture becomes stooped. They may stumble when they walk.
The child may experience poor circulation in the legs causing them to be cold, and their legs may develop a bluish-red color. They may lose body fat and muscle mass. They may have trouble swallowing.
Head growth may slow, and they may develop curvature of the spine. Their breathing may be affected, resulting in hyperventilation or holding their breath.
The child will gradually lose his or her sight, ability to speak, and motor abilities. Eventually children with this condition become unable to walk. Ultimately they will be completely blind, confined to their bed, and suffering from dementia. Death usually occurs in the late teens or twenties, though a small number have lived into their thirties.
Batten Disease is also known as Spielmeyer-Vogt-Sjögren-Batten disease. It is the most common type of neuronal ceroid lipofuscinoses (NCLs), a group of neurodegenerative disorders. While some doctors use the name Batten Disease for all forms of NCLs, it is actually the juvenile form of NCL.
It is passed on genetically when both parents have a particular gene abnormality. There is a 25% chance that a child of two such parents will get the defective gene from both parents and will be born with Batten Disease. There is also a 50% chance that the child may get only one copy of the gene from one parent, making the child a carrier. This means the child will not have the disease, but can pass it on to their children.
Four out of every 100,000 babies born in the U.S. have Batten Disease. There is no known cure at this time.
Resources
NINDS Batten Disease Information Page
http://www.ninds.nih.gov/disorders/batten/batten.htm
What is Batten Disease?
http://www.battens.org.au/about.html
Genetics Home Reference: Juvenile Batten Disease
http://ghr.nlm.nih.gov/condition=juvenilebattendisease
Neuronal Ceroid Lipofuscinoses (NCLs, Batten Disease)
http://www.sickkids.ca/PaediatricLaboratoryMedicine/Laboratories-Services/Molecular-Genetics-Laboratory/Test-Services-Available/Neuronal-Ceroid-Lipofuscinoses.html
Health Library: Batten Disease
http://healthlibrary.epnet.com/GetContent.aspx?token=c5987b1e-add7-403a-b817-b3efe6109265&chunkiid=23620
about.com: Batten Disease
http://rarediseases.about.com/od/rarediseasesb/a/batten.htm
Visit Jody's website and blog at http://www.ncubator.ca and http://ncubator.ca/blogger
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