Children and families |
Alpers' DiseaseThis leaflet explains about Alpers’ Disease which is a rare inherited disorder affecting the ‘grey matter’ of the brain. It causes progressive loss of developmental milestones, severe epilepsy and liver disease, usually in infants and young children. Contents
What is the cause?The exact cause is unknown but we believe it is due to a biochemical fault which causes damage to, and loss of, cells in the grey matter of the brain. The progressive damage to the brain causes epilepsy and increasing physical and mental problems. This is because of increasing blockages in the messages within the brain and from the brain to other parts of the body. How is it diagnosed?Alpers’ disease may be suspected from your child’s symptoms together with an electroencephalogram (EEG) which often shows a distinctive brain-wave pattern. In the later stages of the disease, examining a piece of liver (biopsy) may be helpful but, unfortunately, confirmation may not be possible until after death if a post-mortem examination of the brain is done. Why is it called Alpers’ disease?The condition was first described in 1931 by Dr Alpers. It is possible that more than one disease was originally categorised as Alpers’ Disease so, to be more specific, the term Progressive Neuronal Degeneration of Childhood with Liver Disease ( PNDC) is also used, as well as Poliodystrophy. Is it inherited?Alpers’ Disease is an autosomal recessive disorder; this means that both parents are carriers of the disease. Human beings have about 30 to 40,000 different genes, each of which has a function in making an individual person. The genes are arranged in pairs (one 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 Alpers’ 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 per cent chance of the child being affected. Is prenatal testing available?At present there is no way of telling if an unborn baby will be affected. How common is it?Due to the difficulty in confirming the diagnosis it is not possible to be certain how often Alpers’ Disease occurs but it is likely to affect less than one in every 200,000 people. How does the disease progress?Your child may or may not have shown some developmental delay prior to the onset of the main disease symptoms, which usually occur within the first few years of life; these may initially involve a loss of previously learnt skills and / or a sudden onset of seizures which are usually very difficult to control. The combination of the severe epilepsy and the on-going brain disease,
which is causing the seizures, leads to increasing loss of skills
and awareness. The infant often develops some physical stiffness
(spasticity) and subtle involuntary movements especially of hands,
feet, face and head. The condition is not a painful one and the
child will be unaware of what is happening. The course of the disease
is usually rapid and eventually the combination of the diseased
brain and increasing physical weakness becomes too great to sustain
life, and death usually occurs within a year. 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. Drugs are given to try to reduce some of the seizures, treat infections and relieve any muscle spasm, 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. Though not scientifically proven, many children gain some symptomatic relief from some of the complementary therapies such as cranial osteopathy and massage. Is any research being done?Research is progressing in various areas concerning progressive neurological diseases, particularly ‘mapping genes’ and understanding which gene is responsible for what process. As yet, the Alpers’ gene(s) has not been found. Sadly, therefore, any treatment that could stop or reverse the disease process is unlikely to be discovered quickly enough to help children already affected. Your child’s neurologist and information available from the support group can keep you informed of research progress. What support is available?CLIMB (Children Living with MetaBolic disease) includes an Alper’s Group, and provides written information, telephone advice, support and contact (if wanted) with other families. CLIMB used to be called The Research Trust for Metabolic Diseases in Children.
Ref: F040270 © GOSH Trust 2004
This page was last updated on 7 August, 2008 |
UCL Institute of Child Health
Great Ormond Street Hospital for Children NHS Trust
