Batten disease

Batten disease (or Spielmeyer-Vogt-Sjögren-Batten disease) is an autosomal recessive, heritable neuro-degenerative disease, which is both rare and fatal. As the most common form of the ‘neuronal ceroid lipofuscinosis (abbr. NCLs)’, Batten disease is usually regarded as the juvenile form (or ‘type 3’) of the NCL’s.

Batten disease starts in childhood, usually present around the ages 4-10. Signs and symptoms present gradually, eventually with the onset of seizures or vision problems. Early in the disease, symptoms and signs may include slow learning or some intellectual regression, slight changes on personality and behavior, echolalia (repetitive speech), stumbling, clumsiness, curvature of spine, slowing head growth in the infantile form, decreased body fat and muscle mass, breath-holding spells or hyperventilation, teeth grinding, and constipation. As the disease progresses there are: worsening seizures, mental impairment, and progressive loss of sight, speech, and motor skills. In the end, sufferers will be may be bedridden, blind, with severe intellectual impairment.

Gene therapy method and biotherapy  are experimental trial treatments for Batten disease. Biotherapy for Batten disease seems to be a very promising new modality in the treatment of this devastating illness.

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