Alstrom syndrome
Around 700 cases of Alstrom syndrome are known worldwide.
It is characterized by:
- Cone-rod dystrophy
- Progressive sensorineural hearing impairment
- Cardiomyopathy (dilated or restrictive)
- Obesity
- Insulin resistance
- Multi-organ failure
The first clinical presentation is usually with nystagmus and progressive visual impairment before the age of 15 months. Intelligence is normal.
Diagnosis is clinical.
A mutation in the ALMS1 gene is estimated to be present in 25-40% of cases.
Inheritance is autosomal recessive, but clinical variability in affected individuals is wide, even among siblings.
Contributor Dr Andrew Jones (September 2010)
Reference:
- National Centre for Biotechnology Information http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=alstrom
- UK support group http://www.alstrom.org.uk/
Related pages
Create an account to add page annotations
Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page