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 Infantile Batten’s disease, one of the genes responsible for this process ( on Chromosome 1)  is faulty. 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 usually made by examining a piece of skin, under a microscope, or by enzyme and gene tests on blood.

Does it have any alternative name?

At the beginning of the 20th century Dr Frederick Batten described a group of 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; Infantile Batten’s was first described as a specific form of Batten’s disease in 1968 and is sometimes called Neuronal Ceroid Lipofuscinosis (NCL) Type 1 or Santavuori – Hagberg Disease.

Is it inherited?

Infantile 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 ( 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?

Prenatal testing is possible by chorionic villus sampling early in pregnancy following testing of the parents and affected sibling.

How common is it?

The incidence is not certain. The incidence of Late Infantile Batten’s disease is approximately 1: 200,000; Infantile Batten’s disease is less common.

How does the disease progress?

The infant’s development starts to slow down from 6 to 12 months of age. If he / she has learnt to walk, this skill is lost and co-ordination and manipulation become increasingly difficult. Over the following months the normal developmental skills ( talking, sitting, responding to surroundings ) go into reverse so that he / she becomes as dependant as a new born baby again and vision deteriorates until it is eventually almost lost. Many young children will develop repetitive hand movements ( that look like knitting movements) and become very floppy ( hypotonic) and increasingly unsteady ( ataxic). If the head is measured the growth is extremely slow and the size small for the child’s age. From about 2 years of age the child will experience body jerks / jumps, which are epileptic (Myoclonic) attacks and sometimes, but not always, generalised epileptic seizures may develop. From about the age of 3 years the jerks often subside; at about this age the child’s limbs will then tend to become stiffer rather than floppy. 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 3 – 5 years ( very occasionally up to 8 – 9 years). 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?

Although there is no treatment yet available that can stop the disease, every effort is made to treat the symptoms as they occur. Drugs can be given to try to reduce the jerks and seizures ( if they occur), relieve muscle spasms, and treat infections; pain relief and sedative drugs can be given if required, and feeding can be assisted. Physiotherapists and others can advise parents on positioning, seating and exercising the limbs to maintain comfort. Specialist nursery placements are available with visiting therapists and it can be important for young children to have this stimulating environment and social contact and, indeed for the parents to have some time for themselves and other family members and friends. Music is often particularly enjoyed even in the latest stages of the disease process. Though not scientifically proven, many young children gain some symptomatic relief from some of the complementary therapies, such as cranial osteopathy and massage etc.

Is any research being done?

Research is progressing rapidly with increasing understanding of 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 from the Support Group can keep you informed of research progress.

Is there a Support Group?

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

Heather House
Heather Drive
Hants RG26 4QR

Tel: 01626 888169   and   01484 660386

e-mail : [email protected]
C.Mostyn  GOSH  2005

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