Symptoms and Diagnosis

The symptoms of Batten disease stem from its classification as a lysosomal storage disorder, interfering with cells’ ability to break down wastes. The build-up of waste or, lipofuscin, causes cell death and leads to the early death of children and some adults. During the progression of the disease, which varies by type, the affected child or adult can experience a combination of some of the below characteristics. It is important to note, each presentation is unique and not all symptoms are present in every phenotype.

  • Seizures
  • Visual impairment/blindness
  • Personality and behavior changes
  • Ataxia
  • Myoclonus
  • Dementia
  • Cognitive decline
  • Psychiatric symptoms (i.e. aggression)
  • Extrapyramidal symptoms (i.e. spasms, restlessness, rigidity, tremors, jerky movements)
  • Loss of motor skills and the ability to walk, talk and communicate

Diagnosing Batten Disease

Families tell of very long diagnostic journeys, often years after the first signs of seizures or loss of sight. In a recent needs assessment completed by BDSRA, more than 30 different diagnoses were reported by families before the final Batten diagnostic determination.

Autism, seizure disorder, epilepsy, PDD and others are common early diagnoses. There have been recent improvements in genetic testing that have made diagnosing Batten disease much quicker and more reliable than in years past. Ultimately, we would like to see batten on newborn screening panels and are collaborating in efforts to do so.

Following a review of the person’s individual and family medical history and a neurological exam, several tests can be used to diagnose Batten disease and other neuronal ceroid lipofuscinoses. Currently, most diagnoses of Batten disease are made by genetic testing. Possible diagnostic tests include:

  • DNA analysis/g