Which condition is characterized by self-mutilation and dystonia as symptoms?

The condition characterized by self-mutilation and dystonia is Lesch-Nyhan syndrome. This rare genetic disorder results from a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). The lack of this enzyme disrupts purine metabolism, leading to an accumulation of uric acid.

Individuals with Lesch-Nyhan syndrome exhibit a triad of symptoms: cognitive impairment, behavioral problems including self-injurious behavior (such as biting their lips, fingers, and other body parts), and dystonia, which is a movement disorder characterized by sustained muscle contractions, resulting in abnormal postures. The self-mutilation is particularly notable as it is a distinguishing feature of this syndrome, making it a key aspect of diagnosis.

In contrast, the other conditions listed are not associated with the combination of self-mutilation and dystonia. Polymyalgia rheumatica primarily causes muscle pain and stiffness, especially in the shoulder and hip girdles. Osteogenesis imperfecta is mainly characterized by fragile bones and frequent fractures due to a collagen deficiency. Tuberous sclerosis presents with various developmental abnormalities and tumors in multiple organs, but self-mutilation and dystonia are not typical features. Thus,