SNP Shot: Genomic Insights

Stormorken syndrome is an uncommon disorder impacting various bodily functions. A common symptom is thrombocytopenia, characterized by a deficiency of platelets, crucial blood cells for clotting. This platelet shortage typically leads to increased bruising and bleeding tendencies. Furthermore, individuals with Stormorken syndrome often experience tubular aggregate myopathy, a muscle condition causing muscle weakness. Another characteristic sign is persistent pupil constriction (miosis), potentially due to irregularities in the muscles controlling pupil size. Additional features may include the absence of a functional spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulties with reading and spelling (dyslexia).

Inheritance:

Stormorken syndrome follows an autosomal dominant inheritance pattern. This means that possessing just one copy of the mutated gene in each cell is enough to trigger the condition. Individuals may inherit the mutated gene from an affected parent. Alternatively, the condition can arise from a new gene mutation in individuals with no prior family history of Stormorken syndrome.