Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, repetitive, and patterned movements, or abnormal postures. According to genetic basis, dystonia is classified into 13 subtypes. We mainly discussed two subtypes, DYT1 and DYT5, in this review. Early-onset primary dystonia is caused by the mutation of DYT1 gene, which leads to TORSINA abnormal. GTP cyclohydrolase 1 (GTPCH1)-deficient DRD (DYT5) is caused by the mutations of GCH1 gene. By genetic testing, we can confirm clinical diagnosis of each subtype and develop prenatal diagnosis for it.
Beijing Da Xue Xue Bao Yi Xue Ban 2006 Feb 18
PMID:Clinical and genetic features of DYT1 and DYT5. 1641 80

This article reports a patient with spinal cord injury who was treated with conventional rehabilitation therapy plus repeated transcranial magnetic stimulation (rTMS) during the postoperative rehabilitation, and to observe the effects of rTMS on dystonia. A 66-year-old male patient fell from the bed 8 months ago. At that time, he felt pain in his neck, dysfunction in limbs movement, and loss of sensation in trunk and limbs. Magnetic resonance imaging (MRI) revealed spinal cord injury. Under general anesthesia, anterior cervical decompression and bone graft fusion (ACDF) and cervical spine internal fixation of C 3-C 6 were performed. Postoperative hyperbaric oxygen chamber and conventional rehabilitation treatment were performed. Eight months after surgery, he was admitted to the hospital due to motor function, balance dysfunction, neurogenic bladder/rectal dysfunction. After admission, the patient was treated with rTMS plus rehabilitation treatment, once per day, 5 times/week, for 4 weeks. rTMS worked by wearing a positioning cap for transcranial magnetic stimulation (80% resting motor threshold, 1 Hz, 30 min), and then conduct walking, balance proprioception, muscle strength training, and coordination training. After 4 weeks, MEP, sEMG and H reflex were improved. Therefore, rTMS on the premotor cortex to improve the dystonia after spinal cord injury is effective in this case, which can be further studied.
Sichuan Da Xue Xue Bao Yi Xue Ban 2020 Sep
PMID:[Improvement of Dystonia after Spinal Cord Injury by Applying Repetitive Transcranial Magnetic Stimulation on the Premotor Cortex: Case Report]. 3297 74