Paramyotonia Congenita
Paramyotonia Congenita is a rare genetic disorder that affects muscle function. It is characterized by episodes of muscle stiffness and weakness, often triggered by cold temperatures or physical activity. The condition is caused by mutations in the SCN4A gene, which plays a crucial role in the function of sodium channels in muscle cells.
Individuals with Paramyotonia Congenita may experience symptoms such as muscle cramps and difficulty moving, particularly after exposure to cold. While there is no cure, management strategies include avoiding triggers and maintaining a warm environment to help reduce symptoms.