Batten disease is a fatal, hereditary disorder of the nervous system that begins in childhood. The first symptoms of this disorder usually appear between the ages of 5 and 10 years, when parents or doctors warn that a previously normal child has begun to have seizures or vision problems. In some cases the early signs are subtle. The early symptoms of Batten disease manifest in changes in personality and behavior, slow learning, clumsiness or stumbling while walking.

Over time, the symptoms of Batten disease can lead to mental impairment, more severe seizures and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden and even insane. Batten disease is often fatal to reach the final years of adolescence or reach the age of 20.

Batten disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten is the most common form of a group of disorders called neuronal NCL (NCL by its acronym in English). Although Batten disease is generally regarded as the juvenile form of NCL, doctors often use the term Batten disease to describe all forms of NCL.

There are three main types of neural NCL (NCL), including two forms beginning by early childhood and a very rare form that strikes adults. The symptoms of these three types are similar to those of Batten disease, but become apparent at different ages and progress in different ways.

The child neuronal NCL (Santavuori-Haltia disease) begins about 6 months to 2 years of age and progresses rapidly. Affected children usually do not develop and have an abnormally small head (microcephaly). Also typical are short and sharp contractions of the muscles called myoclonic jerks. Patients usually die before the age of 5 years, although some have remained in a vegetative state a few years.

The late infantile neuronal NCL (Jansky-Bielschowsky disease) begins between ages 2 and 4 years. The typical early signs are loss of muscle coordination (ataxia) and seizures that do not respond to medication. This form progresses rapidly and ends up being lethal in the ages between 8 and 12.

The adult neural NCL (Kufs disease or Parry's disease) usually begins before age 40, causes milder symptoms that progress slowly and does not cause blindness. Although age of death is variable among patients with this disorder definitely shortens life expectancy.

Until now, there is no known specific treatment that can halt or reverse the symptoms of Batten disease or other neural NCL. However, in some cases can reduce or control seizures with anticonvulsant medications and other medical problems can be treated appropriately as they arise. At the same time, physical and occupational therapy can help patients preserve the functioning of your body for as long as possible. Some reports have noted delays of the disease in children with Batten disease who were treated with vitamins C and E and with diets low in vitamin A. However, these treatments did not prevent patients died because of disease.

Helping and encouraging patients can help themselves and their families to face serious situations of disability and dementia caused by neural NCL. Often, support groups allow children, adults and families affected to share common experiences and concerns. Meanwhile, scientists continue to research for something that could result in an effective treatment in the future.