Clinical Features
Alström Syndrome is a very rare recessively inherited genetic disorder which means that both parents will carry the gene although probably be unaffected themselves.
Eye and heart problems are often the first symptoms to appear. During the first few weeks of life a number of babies collapse with congenital heart failure due to dilated cardiomyopathy. Early treatment is often successful and babies appear to recover. Lifelong monitoring of the child's heart is now considered essential. A number of young people develop the dilated cardiomyopathy during their teens and the outcome is not usually as good.
Also during the first few weeks of life it becomes evident that the baby has an intense dislike of bright lights (photophobia) and that the babies eyes appear to wobble (nystagmus). Most Alström Syndrome children will have severe sight loss and are registered blind.
Babies and young children gain weight quickly despite healthy diets and obesity is a great problem. (Early blood tests may show that the child has high insulin levels (hyperinsulinemia). A large percentage of children develop Diabetes Type Two and so should be regularly checked for this.
Hearing loss can occur at any age so it is important to have your childs hearing checked regularly.
Urological problems can develop in the teenage years which cause urinary retention and/or incontinence overflow. The symptoms may be hard to spot at first but severe abdominal pain and soreness around the genitals would be early signs as well as infrequency in visiting the loo.
Alström Syndrome is wide ranging and also can cause a number of other problems affecting the liver, kidneys and cause gastrointestinal problems.
However,it is important to realise thatnot all Alström Syndrome children get all of the problems. Even in the same family where two children are affected the symptoms they develop can vary widely. It is wise to be aware of the possible problems so that early signs and symptoms can be spotted and early treatments begun.
With proper management through diet, exercise and medication those affected by Alström Syndrome can have a good quality of life and some are able to enter University. They are often happy, good-natured children and adults who seem to cope with the many problems they encounter extremely well. If they are not then this is usually a sign that either medically, educationally or socially something is wrong and expert help should be sought.