SNP Shot: Genomic Insights

Dystonia 6 is a type of dystonia, a collection of disorders defined by uncontrollable movements, muscle twisting (torsion) and tightening, and abnormal postures. This particular form of dystonia can manifest at any point from childhood to adulthood, with an average onset age of 18.

The symptoms of dystonia 6 differ from person to person. It typically begins by affecting the muscles of the head and neck, leading to difficulties with speech (dysarthria) and swallowing (dysphagia). Involuntary eyelid spasms (blepharospasm) are also possible. Frequently, one or more limbs are affected, sometimes even before the head and neck symptoms appear. Dystonia 6 progressively worsens and can eventually affect the majority of the body.

Inheritance:

Dystonia 6 follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the disorder. However, some individuals who inherit the mutated gene will not develop the condition, a phenomenon known as reduced penetrance.