Alstrom syndrome is a rare genetic condition that can affect many parts of the body including the eyes, ears, and heart. Symptoms typically begin to appear during infancy and may become worse over time. The key features of Alstrom syndrome include vision problems due to congenital (present at birth) damage to the retina (back of the eye), hearing loss, childhood obesity (excess body weight), and a condition called dilated cardiomyopathy, which occurs when the heart muscle becomes weakened and enlarged. Other symptoms include short stature, early type 2 diabetes mellitus, liver disease, high lipid levels, and kidney disease. The severity of these symptoms varies within each individual. Most individuals with Alstrom syndrome will have normal intelligence, while some may have delays in their developmental milestones and cognitive abilities.
Alstrom syndrome is inherited in an autosomal recessive manner, meaning it occurs as a result of mutations (changes) within both copies of the ALMS1 gene. Often times a doctor will use a child’s medical history and physical exam to determine whether they are likely to have the condition and then use genetic testing of the ALMS1 gene to confirm the diagnosis.
In order to manage Alstrom syndrome, a child may need regular vision exams, hearing tests, lung exams, thyroid function tests, kidney function tests and heart evaluations. Although there is no specific treatment for this condition, there are treatments to manage many of the symptoms. Tinted prescription lenses, weight control, exercise, hearing aids, treatment for cardiac congestion, high dose statins to control cholesterol, hormone treatments, or insulin treatment may be recommended depending on an individual’s symptoms. Talk with your child’s doctor about the most current treatment options. Support groups are also good resources for support and information.