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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| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2022-12-01
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| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/409 |
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| Summary: | 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). |
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| ISSN: | 2073-8803 2412-9178 |