Alstrom syndrome history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]

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Symptoms

Heart failure (dilated cardiomyopathy) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood.
Light sensitivity and vision problems (cone-rod dystrophy) in all cases, usually within 15 months of birth and progressively worsening until about 20 years of age
Developmental delays in 50% of cases, learning disabilities in about 30% of cases
Obesity in 100% of cases, apparent by 5 years of age, but often apparent in infancy (Alström infants usually have normal birth weights, and by adolescence, weights tend to be in the high-normal to normal range)