A Rare Genetic Condition and a Promising Treatment Breakthrough

Alström syndrome (AS) is a rare genetic condition. It affects about 1 in 10, 000 to 1 in 1, 000, 000 live births. It is caused by changes in the ALMS1 gene. A young girl was diagnosed with AS at age 5. She had a unique change in her ALMS1 gene. This change had not been seen before. It was a homozygous nonsense variant. This means both copies of the gene had the same harmful change. The girl's parents were related. This increased the chance of her having this genetic condition. She had several health problems. These included hearing loss, high cholesterol, and high blood sugar. These issues got worse over time. Lifestyle changes did not help much.Doctors tried a new treatment. It was a drug called dulaglutide. This drug helps control blood sugar. It also helps with weight loss. After 48 weeks, the girl's weight and blood sugar improved. Her BMI decreased. Her blood sugar levels became normal. This shows that dulaglutide might be a good treatment for AS. This case is important. It helps us understand AS better. It also shows that dulaglutide can help. More research is needed. But this is a promising start.