Batten Disease

Batten disease, also known as Spielmeyer-Vogt-Sjögren-Batten disease, is a fatal, inherited disorder of the nervous system that begins in childhood. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body’s tissues. Lipopigments are made up of fats and proteins.

At least eight genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the CLN3 gene. Batten disease is inherited in an autosomal recessive pattern.

Early symptoms of the disorder usually appear around ages 4-10, with gradual onset of vision problems, or seizures. Early signs may be:

  • Subtle personality and behavior changes
  • Slow learning or regression
  • Repetitive speech or echolalia
  • Clumsiness
  • Stumbling
  • Slowing head growth (in the infantile form)
  • Poor circulation in lower extremities (legs and feet)
  • Decreased body fat and muscle mass
  • Curvature of the spine
  • Hyperventilation and/or breath-holding spells
  • Teeth grinding
  • Constipation

Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.

Diagnostic tests for Batten disease include:

  • Blood or urine tests
  • Skin or tissue sampling
  • Electroencephalogram (EEG)
  • Electrical studies of the eyes
  • Brain scans

As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.