Alstrom syndrome

A progressive genetic disorder characterized by obesity, deafness, and visual problems in childhood and diabetes with insulin resistance (type 2 diabetes) and kidney failure in adulthood. Individuals with Alström syndrome have been identified in over 20 countries. Although the syndrome is generally rare, it is unusually frequent among Acadians, both those living in Nova Scotia and those in Louisiana. The syndrome first described by C.H. Alström in Sweden in 1959. (It should therefore have two dots over the "o".) The earliest sign of the syndrome in infancy is often extreme light sensitivity (photophobia) and a wobbling of the eyes (nystagmus). Another of the early signs may be dilated cardiomyopathy (enlarged heart) and congestive heart failure in infants under 1 year of age. Infants with the syndrome gain excessive weight during the first year of life and become obese. Multiple organ systems later can be affected, resulting in blindness, hearing impairment, type 2 diabetes, heart failure, liver disease, urological dysfunction, pulmonary fibrosis, and renal failure. Additional features in some cases include hypothyroidism, male hypogonadism, short stature and mild to moderate developmental delay and the complications of type 2 diabetes such as hyperlipidemia (high lipids) and atherosclerosis. The visual defect involves cone–rod retinal dystrophy. Alstrom syndrome is an autosomal recessive condition. Both parents carry one copy of the Alstrom gene and each of their offspring stand a 25% risk of inheriting both of their Alstrom genes and of therefore having the syndrome. In 2002 two research teams independently reported in the journal Nature Genetics that they had found the gene for Alstrom syndrome on chromosome 2 in band 2p13. The gene called ALMS1. Its function is not known. Sources: {{}}Collin GB et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome Published in Nature Genetics online: 8 April 2002, DOI:10.1038/ng867. Hearn T et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome Published in Nature Genetics online 8 April 2002, DOI:10.1038/ng874.