A Rare Genetic Condition and a Promising Treatment Breakthrough

Alström syndrome (AS) is a rare genetic condition affecting about 1 in 10,000 to 1 in 1,000,000 live births. It is caused by changes in the ALMS1 gene.

A Unique Case

A young girl was diagnosed with AS at age 5. She had a unique change in her ALMS1 gene—a homozygous nonsense variant, meaning both copies of the gene had the same harmful change.

Family History and Symptoms

• The girl's parents were related, increasing the likelihood of her condition.
• She experienced multiple health issues, including:
• Hearing loss
• High cholesterol
• High blood sugar
• These problems worsened over time, and lifestyle changes had little effect.

A Breakthrough Treatment

Doctors tried a new drug, dulaglutide, which helps control blood sugar and aids in weight loss.

Results After 48 Weeks

• Weight and blood sugar improved
• BMI decreased
• Blood sugar levels normalized

This suggests that dulaglutide could be an effective treatment for AS.

Significance of the Case

• Helps better understand AS
• Shows dulaglutide as a potential treatment
• More research is needed, but this is a promising start