BATTEN’S DISEASE
LATE INFANTILE FORM

Introduction

Batten’s Disease is a rare inherited disorder affecting the nerve cells in the brain and other parts of the body, causing a progressive loss of physical and mental skills.

What is the cause?

Batten’s disease is caused by an abnormal build-up of substances in the nerve cells throughout the brain and body which prevents them working properly. These substances are normally broken down and removed from the body by an enzyme but, in Batten’s disease, the gene responsible for producing the enzyme is faulty so the normal process cannot occur. As the brain is the control centre of the whole body, blockages in the messages to other parts of the body will prevent those parts working efficiently, even though the parts themselves seem quite healthy

How is it diagnosed?

The diagnosis is now usually made by examining a piece of skin, under a microscope, (confirming the presence of the specific abnormal substance) or by a blood enzyme test.

Does it have any alternative name?

disorders which now bear his name. Over time it was discovered that there were several types of the disease with similar, but distinct, features and ages of presentation; the different types are classified according to the age of presentation; Late infantile Batten’s is sometimes called Neuronal Ceroid Lipofuscinosis(NCL) Type 2 or Jansky-Bielschowsky Type.

Is it inherited?

Batten’s disease is an autosomal recessive disorder; this means that both parents are carriers of the disease. Human beings have about 30-40,000 different genes, each of which has a function in making an individual person. The genes are arranged in pairs (1 of the pair from each parent) on 23 chromosomes. Inevitably, some of these genes are faulty; a normal gene can overcome a faulty one, but if both genes in the pair are faulty, the genetic instructions cannot work. Most people carry different faulty genes but in Batten’s disease (and other recessive conditions) parents, though healthy themselves, carry the same faulty genes, and risk passing them on to their children.

Each pregnancy carries a 25% chance of the child being affected

                                           a 75%  chance of the child NOT being affected.

Is prenatal testing available?

Due to recent advances in genetic studies, prenatal testing for Late Infantile Batten’s Disease is now possible.

How common is it?

It is estimated that the incidence in the UK is approximately 1:200,000.

How does the disease progress?

The child’s development starts to slow down and stop in the second year. Over the next year he/she will lose skills previously learned, become increasingly unsteady, and develop epileptic seizures. The seizures can take the form of ‘drop-attacks’, jerks of the limbs or generalised convulsions. Over the following months and years the normal developmental skills (talking, walking, sitting, responding to surroundings) go into reverse so that he/she becomes as dependant as a new born baby again and vision deteriorates until eventually it is almost lost.  The condition is not a painful one and the child will not be aware of what is happening. The brain’s control of the muscles responsible for chewing, swallowing, coughing etc. eventually becomes affected so that assistance with a feeding tube may be needed, and chestiness will develop and may lead to infections and increasing physical weakness. Eventually the combination of the diseased brain and physical weakness becomes too great to sustain life, and death usually occurs between the ages of 8-12years.  Parents and carers will be aware of the child’s increasing frailty, and death is usually relatively peaceful and expected when the time comes. 

Is there any treatment?

The child’s development starts to slow down and stop in the second year. Over the next year he/she will lose skills previously learned, become increasingly unsteady, and develop epileptic seizures. The seizures can take the form of ‘drop-attacks’, jerks of the limbs or generalised convulsions. Over the following months and years the normal developmental skills (talking, walking, sitting, responding to surroundings) go into reverse so that he/she becomes as dependant as a new born baby again and vision deteriorates until eventually it is almost lost.  The condition is not a painful one and the child will not be aware of what is happening. The brain’s control of the muscles responsible for chewing, swallowing, coughing etc. eventually becomes affected so that assistance with a feeding tube may be needed, and chestiness will develop and may lead to infections and increasing physical weakness. Eventually the combination of the diseased brain and physical weakness becomes too great to sustain life, and death usually occurs between the ages of 8-12years.  Parents and carers will be aware of the child’s increasing frailty, and death is usually relatively peaceful and expected when the time comes. 

Is any research being done?

Research is progressing rapidly with increasing understanding of the genes and how they work; this is already bringing benefits in the area of prenatal diagnosis. Sadly, however, any treatment that could reverse the disease process is unlikely to be discovered quickly enough to help children who already have symptoms. Your neurologist and information available from the support group can keep you informed of research progress.

Is there a Support Group?

The Batten Disease Family Association   can provide information, support and contact (if wanted) with other families: Batten Disease Family Association

Cliffside
42 Teignmouth Road
Teignmouth
TQ14 8UT
Tel: 01626 777194