Andersen disease
Andersen disease, also known as Andersen's syndrome, is a rare genetic disorder that primarily affects the heart and skeletal muscles. It is caused by mutations in the KCNJ2 gene, which plays a crucial role in regulating potassium channels in cells. Symptoms can include heart rhythm problems, muscle weakness, and distinctive facial features.
The condition is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene from an affected parent can lead to the disease in their child. Diagnosis typically involves genetic testing and clinical evaluation. Management focuses on treating symptoms and monitoring heart health.