What is the pathogenesis of dystonia

I've seen many people asking about the pathogenesis of dystonia online, and I happen to know something about it, so I'd like to share it with you. Dystonia is a movement disorder syndrome characterized by abnormal muscle tension movements and postures caused by uncoordinated or excessive contraction of agonist and antagonist muscles. It is involuntary and persistent. According to the cause, it can be divided into primary and secondary. What is the cause of dystonia?

Primary dystonia is mostly sporadic, and a few have a family history. It is inherited in an autosomal dominant or recessive manner, or in an X-chromosome-linked manner, and is most common in children or adolescents aged 7 to 15 years. The vast majority of autosomal dominant primary torsion spasms are caused by mutations in the DYT1 gene located at 9q32-34, with a penetrance of 30% to 50%. Dopa-responsive dystonia is also inherited in an autosomal dominant manner and is caused by mutations in the guanosine triphosphate cyclohydrolase-1 (GCH-1) gene. Studies have confirmed that peripheral trauma can induce dystonia in carriers of the primary dystonia gene, such as oromandibular dystonia, with a history of facial or dental injury before the onset of the disease. In addition, excessive exertion of one limb can also induce dystonia. For example, in various occupational dystonias, writer's cramp, typist's cramp, limb cramps of instrumentalists and athletes, peripheral factors are often considered to be the main factor. Therefore, it is speculated that the cause is due to the reorganization of the spinal motor circuit or the change of motor-sensory connection above the spinal cord level, which leads to the change of basal ganglia function.

Secondary (symptomatic) dystonia refers to any lesions involving the neostriatum, paleostriatum, thalamus, locus coeruleus, brainstem reticular formation, etc., which can cause symptoms of dystonia, such as hepatolenticular degeneration, kernicterus, gangliosidosis, globus pallidus and substantia nigra pigmentary degeneration, progressive supranuclear ophthalmoplegia, bilateral basal ganglia calcification, hypoparathyroidism, poisoning, cerebrovascular disease, brain trauma, encephalitis, schizencephaly, drug-induced (L-DOPA, phenothiazines, butyrophenones, metoclopramide, chemotherapy drugs), etc.

Dystonia is a relatively harmful disease, so it is still necessary to do a good job in disease prevention. For diseases with a genetic background, preventive measures include avoiding consanguineous marriage, promoting genetic counseling, carrier gene testing and prenatal diagnosis, etc. Early diagnosis, early treatment, and enhanced clinical care are of great significance to improving the quality of life of patients