What are the symptoms? 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. What are the causes? Alström syndrome is caused by mutations of the ALMS1 gene located on chromosome 2. The gene normally codes for a protein linked with a tiny hair, called a cilium, on all of our cells which also links with tubules within cells carrying receptors to the surface of the cell. How is it diagnosed? Observation of the characteristic symptoms may indicate Alström syndrome. Genetic testing can confirm the presence of a defect in the ALMS1 gene. The complex symptoms found in Alström Syndrome overlap but are distinct from those of other genetic disorders affecting cilia, and other causes of infant blindness. How is it treated? Specialised multi-disciplinary clinics, funded by NHS England, are available in Birmingham to all patients throughout the UK and they provide the opportunity to be reviewed by a variety of different specialists to screen for known complications; and a number of tests are carried out. Unfortunately there is no cure for Alström Syndrome but it is felt that these screening clinics, combined with a healthy balanced diet and regular exercise can improve the health outcomes for people diagnosed. Inheritance patterns and prenatal diagnosis Inheritance patternsAlström syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry one copy of the ALMS1 gene with a significant mutation to have an affected child. Genetic testing may be possible by amniocentesis or chorionic villus sampling if the gene defect in a family is known. Genetic counselling should be sought for families affected by the condition. Prenatal diagnosis Prenatal testing and pre-implantation genetic diagnosis may also be available. Is there support? Alström Syndrome UK Tel: 01803 613 117Email: [email protected]Website: alstrom.org.uk The group is a Registered Charity in England and Wales No. 1071196. It provides information and support for families and individuals affected by Alström Syndrome in the UK and throughout Europe. Group details last updated July 2016.
What are the symptoms? 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.
What are the causes? Alström syndrome is caused by mutations of the ALMS1 gene located on chromosome 2. The gene normally codes for a protein linked with a tiny hair, called a cilium, on all of our cells which also links with tubules within cells carrying receptors to the surface of the cell.
How is it diagnosed? Observation of the characteristic symptoms may indicate Alström syndrome. Genetic testing can confirm the presence of a defect in the ALMS1 gene. The complex symptoms found in Alström Syndrome overlap but are distinct from those of other genetic disorders affecting cilia, and other causes of infant blindness.
How is it treated? Specialised multi-disciplinary clinics, funded by NHS England, are available in Birmingham to all patients throughout the UK and they provide the opportunity to be reviewed by a variety of different specialists to screen for known complications; and a number of tests are carried out. Unfortunately there is no cure for Alström Syndrome but it is felt that these screening clinics, combined with a healthy balanced diet and regular exercise can improve the health outcomes for people diagnosed.
Inheritance patterns and prenatal diagnosis Inheritance patternsAlström syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry one copy of the ALMS1 gene with a significant mutation to have an affected child. Genetic testing may be possible by amniocentesis or chorionic villus sampling if the gene defect in a family is known. Genetic counselling should be sought for families affected by the condition. Prenatal diagnosis Prenatal testing and pre-implantation genetic diagnosis may also be available.
Is there support? Alström Syndrome UK Tel: 01803 613 117Email: [email protected]Website: alstrom.org.uk The group is a Registered Charity in England and Wales No. 1071196. It provides information and support for families and individuals affected by Alström Syndrome in the UK and throughout Europe. Group details last updated July 2016.