Cone Rod Dystrophy- this is often the first symptom noticed within the first few months of life. Parents may notice that their child's eyes are 'wobbling' and this is later confirmed by an ophthalmologist (eye specialist) to be nystagmus. Young people also develop photophobia and become extremely sensitive to light. The majority of young people are registered severely sight impaired by the age of five although they may retain some useful vision for some time.
Sensorineural Hearing Loss- usually detected before the age of 10 and many young children will also suffer from glue ear and a constant runny nose.
Obesity-children can put on weight rapidly despite the fact that they may eat similar portions of food to their peers. This may relate to reduced exercise ability with sensory deficits, and increased hunger.
Type 2 Diabetes- diabetes is common amongst the majority of people with Alström Syndrome from teenage onwards, and regular blood tests are carried out to detect early signs.
Dilated Cardiomyopathy- around 40% of young people may develop heart failure within the first few months of life and this is often initially thought to be the result of some kind of virus. They often tend to recover, although not completely and there is a possibility that this can re-occur in future. All people with Alström Syndrome are at risk of developing cardiomyopathy at some point in their lives.
Other symptoms may include liver and kidney disease, scoliosis, urological (urinary system) and respiratory problems.
It is important to note that not everyone diagnosed will experience all of these symptoms. Alström Syndrome should be considered if a person presents with two or more of these symptoms.