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What is Batten Disease?

Batten disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (or NCL).

Although Batten disease is usually regarded as the Juvenile form of NCL, it has now become the term to encompass all forms of NCL.

The forms of NCL are classified by age of onset and have the same basic cause, progression and outcome but are all genetically different, meaning each is the result of a different gene. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease/NCL become blind, bedridden and unable to communicate, and presently, it is always fatal.

Batten disease is not contagious or, at this time, preventable.
  • Infantile NCL (Santavuori-Halta disease) begins between about 6 months and 2 years of age and progresses rapidly. Affected children fail to thrive and have abnormally small heads (microcephaly). Also typical are short, sharp muscle contractions called myoclonic jerks. Initial signs of this disorder include delayed psychomotor development with progressive deterioration, other motor disorders, or seizures. The Infantile form has the most rapid progression and children live into their mid-childhood years.                                      
  • Late Infantile NCL (Jansky-Bielschowsky disease) begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures along with progressive mental deterioration. This form progresses rapidly and ends in death between ages 8 and 12. 
  • Juvenile NCL (Batten disease) begins between the ages of 5 and 8. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s.                                                                                                                                                                                   
  • Adult NCL (Kufs disease or Parry disease) generally begins before the age of 40, causes milder symptoms that progress slowly, and does not cause blindness. Although age ofdeath is variable among affected individuals, this form does shorten life expectancy.

BDSRA helps scientists by fostering awareness, promoting more research, providing samples and information, and by funding research that is directed towards understanding all forms of Batten disease and development of therapies.

Support and encouragement can help children and families cope with the profound disability and losses caused by NCLs. The Batten Disease Support and Research Association enables affected children, adults and families to share common concerns and experiences.

Meanwhile, scientists pursue medical research that will someday yield an effective treatment.


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