SNP Shot: Genomic Insights

Isolated hyperCKemia refers to a state where creatine kinase, an enzyme, is found at abnormally high levels in the bloodstream. Individuals diagnosed with this condition typically exhibit enzyme levels 3 to 10 times the normal range. Although elevated creatine kinase is frequently linked to muscle disorders, those with isolated hyperCKemia do not experience muscle weakness or other related symptoms. Microscopic examination of muscle cells in some individuals reveals abnormalities such as variations in muscle fiber size; however, these cellular changes do not impair muscle function.

Inheritance:

The inheritance pattern of this condition is autosomal dominant. This implies that possessing a single copy of the mutated gene within each cell is enough to manifest the disorder. Generally, an individual with isolated hyperCKemia will have a parent who also has the condition or another caveolinopathy. In rare instances, the condition arises from a new genetic mutation, occurring in individuals without any prior family history of caveolinopathies.