SNP Shot: Genomic Insights

Paramyotonia congenita is a condition impacting skeletal muscles, which are responsible for movement. Individuals with this disorder, typically from infancy or early childhood, experience episodes of myotonia, characterized by prolonged muscle tensing that hinders normal muscle relaxation. This myotonia results in muscle stiffness, often triggered by exercise or muscle cooling. The stiffness primarily affects muscles of the face, neck, arms, and hands, but can also involve breathing and lower body muscles. A distinctive feature of paramyotonia congenita, unlike many other myotonic conditions, is that the stiffness intensifies with repeated movements.

While cold temperatures can affect muscle function even in healthy individuals, the impact is significantly more pronounced in those with paramyotonia congenita. Initially, cold exposure induces muscle stiffness. However, prolonged exposure can lead to temporary episodes of muscle weakness, ranging from mild to severe, lasting for several hours. Some older individuals with paramyotonia congenita may develop permanent and debilitating muscle weakness.

Inheritance:

Paramyotonia congenita follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the condition. Often, affected individuals have one parent who also has the disorder.