What Is Batten Disease? Symptoms, Treatment And Management

Batten disease is a nervous system disorder which characteristically starts in childhood. Symptoms commence between 5 – 10 years of age. It is an autosomal recessive condition. The disorder is the commonest type of a collection of diseases called neuronal ceroid lipofuscinoses.

Batten disease is typically looked upon as the infantile form of neuronal ceroid lipofuscinoses (NCL); on the other hand, some doctors use the terminology Batten disease to portray all forms of NCL.

NCLs are recorded by the age of disease commencement as – infantile, late infantile, juvenile NCL or adult NCL. About 20 genes have been recognized in relation to Batten disease. The condition was first described in 1903; it is named after the British pediatrician Fredrick Batten.

Batten disease is a rather rare condition which usually occurs in 2 – 4 of every 100,000 live births in the US. It appears to be commoner in Sweden, Finland, parts of northern Europe, and Canada. Although rare, it is known to afflict more than one person in families which carry the faulty genes.

Symptoms Of Batten Disease

Early clinical features appear around ages 2 to 10 years, with an insidious onset of problems with vision or seizures.

Early signs could be slow learning, alterations in the personality and behavior, stumbling, recurring speech, and ungainliness. Poor circulation in the lower extremities, inadequate growth of the head, reduced body fat and muscle mass, hyperventilation, grinding of teeth and constipation occur.

With time, there will be mental impairment, an aggravation of the seizures, and a loss of speech, vision, and motor skills. The condition is an incurable one; life expectancy is based upon the kind of disorder the child is suffering from.

What Causes Batten Disease?

The condition is inherited in an autosomal recessive manner. Batten disease is responsible for a majority of neurodegenerative diseases which afflict children. The frequency of the disease is approximately 1 per 12,500 individuals. The definite type of neuronal ceroid lipofuscinoses is typified by the age of the onset of the symptoms and the kind of genetic mutation that is involved.

Treatment And Management Of Batten Disease

  • Brineura is the 1st FDA permitted drug to help slow down the loss of functioning of the legs in 3 year olds and older. Palliative treatment is symptomatic and supportive.
  • No definite treatment regimen is known which can help turn round the symptoms of Batten disease or other neuronal ceroid lipofuscinoses. On the other hand, seizures can be decreased or managed with anti-convulsant medications.
  • Other clinical features and symptoms are managed suitably as they occur.
  • Physiotherapy and occupational therapy helps preserve functions as long as is possible.
  • Some cases have seen some degree of amelioration when treated with vitamins C and E and when given a diet low in vitamin A. Conversely, these treatments did not put a stop to the terminal outcome of the disease.
  • Support can help patients and families deal with the disability and dementia caused by NCLs better. Support groups facilitate the affected children, adults, and families to share common concerns and experiences and make living with the disease easier.
  • For now, researchers and scientists chase medical study which may someday yield an effectual treatment.
  • Nonetheless, the condition is fatal; and the case is terminal, usually in the teenage period or early 20s.