The information you are about to read is based on our exspeirence and research and is not intended to replace a diagnoses from a qualified physician.
Batten Disease or NCLs is a fatal disease that effects mostly children, however more rare is an adult form of Batten. NCL stands for Neuronal Ceroid Lypofuscinosis , which are a group of disorders but because the name is so difficult to pronounce the name Batten Disease is used to cover them all. NCL have the same cause, progression and outcome. They are lysosomal storage disorders , which means that the lysosome, a small membrane bound structure found in most cells stores material that it would normally recycle. The lysosome contain enzymes whose job it is to break down other proteins for elimination. A missing lysosomal protein can cause a build up of proteins.
Batten disease is a autosomal recessive disorder, that occurs when a child inherits two copies of the defective genes, one from each parent. Thus, both parents are carriers of these genes. The parents who are carriers, there children face a one in four chance of developing NCL. At the same time, each child also faces a one in two chance of inheriting just one copy of the defective gene . Individuals who have only one defective gene, do not develop the disease, however, they can pass it on to there children. When a family has children with a certain type of batten disease, members of that family will have the same type, in other wards, if the effected child is diagnosed with Juvenile form of batten disease, some one in the family can't develop another form such as infentile or adult form. One type stays with one family. However there may be cases where variant forms have developed.
There are four general forms of Batten Disease. Researchers are finding variant forms. I'm going to tell you of the main ones. Infantile, Late infantile, Juvenile, and adult or Kuffs. Each form is based upon the age of onset of the disease. Infantile , age of onset 6 months - 2yrs , Late infantile, 2-4years of age, Juvenile 5-10 years , and Adult, usually before age 40. The age of life expectancy is individual and cannot be predicted exactly the time of death but generally the earlier the onset, the shorter the life of the child.
Over time , affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, they become blind, bedridden, and unable to commuicate. Batten Disease is always fatal.
There is no cure yet!....
As yet, no specific treatment is known that can halt or reverse the symptoms of batten disease or other NCLs. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated as they occur.
Different therapies such as, Physical and occupational , may help patients retain function as long as possible.