Alström Syndrome is an ultra rare recessively inherited genetic disorder, which means that both parents will carry the gene although probably be unaffected themselves. ASUK know of around 80 families in the UK who are affected, this figure could be higher due to delayed diagnosis and the rarity of the condition, many may still be undiagnosed.
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 Hypertriglyceridemia (elevation of fatty substances in the blood)Cardiomyopathy (poor cardiac function, where the heart muscle is weakened and enlarged)Bladder and Bowel problemsIt is important to remember, AS symptoms may develop at different stages and not everyone is affected by all of the symptoms. Even amongst siblings the symptoms can vary.
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 may develop the dilated cardiomyopathy during their teenage years, so monitoring of the heart is essential.
Also during the first few weeks of life, it becomes evident that the baby has an intense dislike of bright lights (photophobia) and the babies eyes appear to wobble (nystagmus). Children affected by Alström Syndrome may have progressive sight loss. Babies and young children may gain weight quickly 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 may also cause a number of other problems affecting the liver, kidneys and cause gastrointestinal problems.
However, it is important to realise that not everyone will get all of these problems. Even in the same family where two children are affected the symptoms 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 sought. The AS medical screening clinics help to monitor the health of patients and the medical experts can diagnose any problems early. ASUK can refer you to these clinics which are held in Birmingham.
With proper management through diets, exercise and medication those affected by Alström Syndrome can have a good quality of life. ASUK is here to support you every step of the way, so please get in touch we would love to hear from you.