Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
This article presents a clinical observation of a patient with a rare form of primary dystonia – type 28 dystonia associated with a heterozygous mutation in the KMT2B gene (OMIM: 617284) for the first time in the Russian literature. The disease started at the age of 6 years with unilateral dystonia...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2022-12-01
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| Series: | Русский журнал детской неврологии |
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| Online Access: | https://rjdn.abvpress.ru/jour/article/view/409 |
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| author | V. A. Bulanova M. A. Bykanova N. А. Kuleva |
| author_facet | V. A. Bulanova M. A. Bykanova N. А. Kuleva |
| author_sort | V. A. Bulanova |
| collection | DOAJ |
| description | This article presents a clinical observation of a patient with a rare form of primary dystonia – type 28 dystonia associated with a heterozygous mutation in the KMT2B gene (OMIM: 617284) for the first time in the Russian literature. The disease started at the age of 6 years with unilateral dystonia of the foot, acquired the features of generalized dystonia in the 1st year from the beginning. The mutation found in proband (chr19:36229249GC>G) was not described earlier. Dystonia was insensitive to levodopa, the effect of botulinum toxin treatment was insufficient; a notable clinical result has been achieved with deep brain stimulation (DBS). |
| format | Article |
| id | doaj-art-42d4b0e2d67e4b129732fc8d4935f75b |
| institution | Kabale University |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| publishDate | 2022-12-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj-art-42d4b0e2d67e4b129732fc8d4935f75b2025-08-20T04:00:01ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782022-12-01173798410.17650/2073-8803-2022-17-3-79-84280Dystonia type 28 with early onset (DYT-KMT2B): a clinical caseV. A. Bulanova0M. A. Bykanova1N. А. Kuleva2Department of Nervous Diseases with Medical Genetics and Neurosurgery, Yaroslavl State Medical University, Ministry of Health of RussiaDepartment of Nervous Diseases with Medical Genetics and Neurosurgery, Yaroslavl State Medical University, Ministry of Health of RussiaMedical and Genetic Consultation, Yaroslavl Regional Perinatal CenterThis article presents a clinical observation of a patient with a rare form of primary dystonia – type 28 dystonia associated with a heterozygous mutation in the KMT2B gene (OMIM: 617284) for the first time in the Russian literature. The disease started at the age of 6 years with unilateral dystonia of the foot, acquired the features of generalized dystonia in the 1st year from the beginning. The mutation found in proband (chr19:36229249GC>G) was not described earlier. Dystonia was insensitive to levodopa, the effect of botulinum toxin treatment was insufficient; a notable clinical result has been achieved with deep brain stimulation (DBS).https://rjdn.abvpress.ru/jour/article/view/409primary dystoniamutation of the gene kmtb2dyt-kmt2b |
| spellingShingle | V. A. Bulanova M. A. Bykanova N. А. Kuleva Dystonia type 28 with early onset (DYT-KMT2B): a clinical case Русский журнал детской неврологии primary dystonia mutation of the gene kmtb2 dyt-kmt2b |
| title | Dystonia type 28 with early onset (DYT-KMT2B): a clinical case |
| title_full | Dystonia type 28 with early onset (DYT-KMT2B): a clinical case |
| title_fullStr | Dystonia type 28 with early onset (DYT-KMT2B): a clinical case |
| title_full_unstemmed | Dystonia type 28 with early onset (DYT-KMT2B): a clinical case |
| title_short | Dystonia type 28 with early onset (DYT-KMT2B): a clinical case |
| title_sort | dystonia type 28 with early onset dyt kmt2b a clinical case |
| topic | primary dystonia mutation of the gene kmtb2 dyt-kmt2b |
| url | https://rjdn.abvpress.ru/jour/article/view/409 |
| work_keys_str_mv | AT vabulanova dystoniatype28withearlyonsetdytkmt2baclinicalcase AT mabykanova dystoniatype28withearlyonsetdytkmt2baclinicalcase AT nakuleva dystoniatype28withearlyonsetdytkmt2baclinicalcase |