The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndrome
The progressive myoclonic epilepsies syndrome (PME) is a heterogeneous group of genetic disorders characterized by myoclonus, progressive motor and cognitive abnormalities, sensory and cerebellar symptoms, abnormal slowing of the basic bioelectrical activity at electroencephalography, and normal cog...
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| Format: | Article |
| Language: | Russian |
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MONIKI
2022-12-01
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| Series: | Alʹmanah Kliničeskoj Mediciny |
| Subjects: | |
| Online Access: | https://almclinmed.ru/jour/article/viewFile/1751/1501 |
| _version_ | 1811301212002189312 |
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| author | Elena D. Belousova |
| author_facet | Elena D. Belousova |
| author_sort | Elena D. Belousova |
| collection | DOAJ |
| description | The progressive myoclonic epilepsies syndrome (PME) is a heterogeneous group of genetic disorders characterized by myoclonus, progressive motor and cognitive abnormalities, sensory and cerebellar symptoms, abnormal slowing of the basic bioelectrical activity at electroencephalography, and normal cognitive functions and normal development of the patient before manifestation of the disease. Generalized spike-wave complexes at electroencephalography have been also described as an obligatory symptom. The Unverricht-Lundborg disease is a distinct entity within the group with specific age at manifestation (7 to 13 years), as well as slow cognitive and motor decline with stabilization in the adult age. In 90% of the cases, the diagnosis is confirmed by identification of the expanded nucleotide duplicates in the CSTB gene. An adequately tailored anticonvulsant treatment can stabilize and improve the patient's condition. The anticonvulsant therapy should not include sodium channel blockers. Valproate sodium is considered to be the main agent; it is usually combined with levetiracetam/zonisamide/topiramate/benzodiazepins. In the recent years, perampanel has been also used as a part of the combination treatment. |
| first_indexed | 2024-04-13T07:04:55Z |
| format | Article |
| id | doaj.art-ddbb186af48b4673b6ae07b043ad5795 |
| institution | Directory Open Access Journal |
| issn | 2072-0505 2587-9294 |
| language | Russian |
| last_indexed | 2024-04-13T07:04:55Z |
| publishDate | 2022-12-01 |
| publisher | MONIKI |
| record_format | Article |
| series | Alʹmanah Kliničeskoj Mediciny |
| spelling | doaj.art-ddbb186af48b4673b6ae07b043ad57952022-12-22T02:57:02ZrusMONIKIAlʹmanah Kliničeskoj Mediciny2072-05052587-92942022-12-0150532933410.18786/2072-0505-2022-50-041896The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndromeElena D. Belousova0https://orcid.org/0000-0003-3594-6974N.I. Pirogov Russian National Research Medical UniversityThe progressive myoclonic epilepsies syndrome (PME) is a heterogeneous group of genetic disorders characterized by myoclonus, progressive motor and cognitive abnormalities, sensory and cerebellar symptoms, abnormal slowing of the basic bioelectrical activity at electroencephalography, and normal cognitive functions and normal development of the patient before manifestation of the disease. Generalized spike-wave complexes at electroencephalography have been also described as an obligatory symptom. The Unverricht-Lundborg disease is a distinct entity within the group with specific age at manifestation (7 to 13 years), as well as slow cognitive and motor decline with stabilization in the adult age. In 90% of the cases, the diagnosis is confirmed by identification of the expanded nucleotide duplicates in the CSTB gene. An adequately tailored anticonvulsant treatment can stabilize and improve the patient's condition. The anticonvulsant therapy should not include sodium channel blockers. Valproate sodium is considered to be the main agent; it is usually combined with levetiracetam/zonisamide/topiramate/benzodiazepins. In the recent years, perampanel has been also used as a part of the combination treatment.https://almclinmed.ru/jour/article/viewFile/1751/1501progressive myoclonic epilepsiesdiagnostic criteriaunverricht-lundborg diseaseanticonvulsant treatment |
| spellingShingle | Elena D. Belousova The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndrome Alʹmanah Kliničeskoj Mediciny progressive myoclonic epilepsies diagnostic criteria unverricht-lundborg disease anticonvulsant treatment |
| title | The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndrome |
| title_full | The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndrome |
| title_fullStr | The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndrome |
| title_full_unstemmed | The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndrome |
| title_short | The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndrome |
| title_sort | unverricht lundborg disease as a part of the progressive myoclonic epilepsies syndrome |
| topic | progressive myoclonic epilepsies diagnostic criteria unverricht-lundborg disease anticonvulsant treatment |
| url | https://almclinmed.ru/jour/article/viewFile/1751/1501 |
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