Calsequestrin deficiency

Calsequestrin deficiency is a rare genetic condition where the protein calsequestrin, which helps store calcium inside muscle cells—especially in the heart and muscles—works improperly. Calcium is essential for muscle contractions. Without enough effective calsequestrin, muscles can have trouble contracting properly, which may lead to symptoms like muscle weakness, irregular heartbeats, or increased risk of muscle fatigue. This deficiency affects the muscle cells' ability to manage calcium levels efficiently, impacting muscle function and heart rhythm. Treatment focuses on managing symptoms and maintaining muscle and heart health.