laminopathies
Laminopathies are a group of genetic disorders caused by mutations in the genes that encode lamins, which are proteins that provide structural support to the cell nucleus. These conditions can affect various tissues and organs, leading to a range of symptoms, including muscle weakness, heart problems, and skin abnormalities.
Common types of laminopathies include Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford progeria syndrome, and familial partial lipodystrophy. Diagnosis typically involves genetic testing and clinical evaluation. Treatment focuses on managing symptoms and may include physical therapy, medications, and regular monitoring of affected organs.