Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
8 citations,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
5 citations,
January 2018 in “Annals of Dermatology” A 308 nm excimer laser successfully treated a boy with a rare skin condition after about a year of weekly sessions.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
Understanding genetics is crucial for treating heart and skin diseases.