What is Batten Syndrome?

batten syndrome

Batten Disease, or Spielmeyer-Vogt-Sjögren-Batten disease, is a fatal rare neurodegenerative disorder that manifests itself during childhood.  The early symptoms of the disease appear during early years of childhood, as little as two years of age, but it can manifest itself up until the child reaches 10. The very first symptoms to appear are vision problems, gradually manifesting and/or occasional seizures. These symptoms are normally accompanied by other signs that might be present on different intensities. Children afflicted with this disease can experience personality and behavior changes, repetitive speech, clumsiness and learning disabilities.

Frederick Batten, a British pediatrician, first described Batten disease in 1903. It is inherinted by what is called “autosomal recessive pattern”, which means that two parents that are unaffected carriers can have children normally but will have the risk of having a child with Batten disease.

The way a child can get Batten Disease, can be from a rare circumstance. Both men and women can be carriers of a defective gene that can cause the syndrome, and there is a 25% chance that a child from birthed from carrier parent to have Batten syndrome. Both parents can effectively have children unaffected by the disease, however their children can also be carriers of this gene. If a child receives or is inherited two copies of the defective gene the child will have Batten disease.

The diagnosis of Batten disease can be relatively easy to obtain, however since the early signs of Batten could mean different things testing is crucial in order to determine what might be the reason behind them. That is why if an eye doctor performs a test and detects loss of cells, they will recommend further testing to rule out any possibility of this disease or other similar to this one.

Types of Batten Disease:




Age of Onset 




6 mos. — 2 yrs.

Late Infantile



2 — 4 yrs.




5 — 7 yrs.




25 — 40 yrs.

Finnish Late Infantile



2 — 4 yrs.

Variant Late Infantile



3 — 5 yrs.

Turkish Late Infantile



2 — 4 yrs.

Northern Epilepsy



5 — 10 yrs.

Variant Juvenile



5 — 7 yrs.




Birth — 2 yrs.



A neurologist can administer some tests on the patient to seek further information on the child’s condition. Such tests are blood or urine tests, skin or tissue sampling, EEG scans (short for Electroencephalogram) and DNA analysis, which is also a great tool to help people non-affected with it to determine if a person is an unaffected carrier.

Currently, there is no treatment available for Batten disease. Presently there is no specific treatment known that can stop and reverse the symptoms of Batten disease or other diseases from the same strain. Presently what can be offered for patients are stabilizing drugs to reduce and control seizures. Although physical capabilities will be lost, therapy can be applied to help patients keep those functions longer.

Recent researches and studies have shown that there might be possibilities of slowing the disease down, by treating the patients with Vitamins C and E. However, this treatment did not prevent the fatal disease from reaching its fatal outcome.

Batten disease is a devastating syndrome that not only affects children it also puts an enormous burden and grief of the children’s family members. Support groups, such as www.globalgenes.com, are vital to help these families deal with the day to day of taking care of the children that have Batten. Meanwhile, studies and researches are being performed constantly by leading biomedical teams from different entities all over the world, seeking a cure for such a difficult disease.