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What is Alstrom Syndrome?

Alström Syndrome is a very rare recessively inherited genetic disorder which means that both parents will carry the gene although probably be unaffected themselves.

Alström Syndrome is characterised principally by:

  • Retinal Degeneration (inherited progressive eye disease)
  • Nystagmus (wobbly eyes)
  • Photophobia (sensitivity to light)
  • Sensorineural Hearing Loss (disorders of the cochlear part of the ear)
  • Obesity and Insulin Resistance

Additional Feature may Include:

  • Renal and Hepatic Dysfunction (affecting the liver and kidneys)
  • Type 2 Diabetes Mellitus
  • Hypertriglyceridaemia (elevation of fatty substances in the blood)
  • Cardiomyopathy (poor cardiac function, where the heart muscle is weakened and enlarged)
  • Bladder and Bowl problems

Alström Syndrome UK have produced the first medical handbook which can be downloaded here

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 teenage years.

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  children affected by Alström Syndrome 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 should be regularly checked for this.

Hearing loss can occur at any age so it is important to have your child’s 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 that not 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. 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.

Media Reviewed: August 2015
Next Review: August 2017