Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report
The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes. The main motor manifestations of the spinal and bulbar muscul...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2020-06-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/376 |
| _version_ | 1797695477008826368 |
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| author | E. O. Ivanova E. Yu. Fedotov S. N. Illarioshkin |
| author_facet | E. O. Ivanova E. Yu. Fedotov S. N. Illarioshkin |
| author_sort | E. O. Ivanova |
| collection | DOAJ |
| description | The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes. The main motor manifestations of the spinal and bulbar muscular atrophy are weakness, atrophy and fasciculation of the muscles of the limbs and bulbar group. Traditionally spinal and bulbar muscular atrophy belongs to the group of motor neuron diseases, but in recent years there is increasing evidence of a significant role of primary muscle pathology in the pathogenesis and clinical picture of this disease. This article provides a review of the literature on the pathogenesis, clinical manifestations and diagnosis of the spinal and bulbar muscular atrophy. We present a case report of the spinal and bulbar muscular atrophy with a clinical findings resembling metabolic myopathy. |
| first_indexed | 2024-03-12T03:12:57Z |
| format | Article |
| id | doaj.art-2c9f0137d5f043a0bdf6a5e0aa687169 |
| institution | Directory Open Access Journal |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| last_indexed | 2024-03-12T03:12:57Z |
| publishDate | 2020-06-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj.art-2c9f0137d5f043a0bdf6a5e0aa6871692023-09-03T14:15:44ZrusABV-pressНервно-мышечные болезни2222-87212413-04432020-06-01101818710.17650/2222-8721-2020-10-1-81-87263Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case reportE. O. Ivanova0E. Yu. Fedotov1S. N. Illarioshkin2ФГБНУ «Научный центр неврологии»ФГБНУ «Научный центр неврологии»ФГБНУ «Научный центр неврологии»The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes. The main motor manifestations of the spinal and bulbar muscular atrophy are weakness, atrophy and fasciculation of the muscles of the limbs and bulbar group. Traditionally spinal and bulbar muscular atrophy belongs to the group of motor neuron diseases, but in recent years there is increasing evidence of a significant role of primary muscle pathology in the pathogenesis and clinical picture of this disease. This article provides a review of the literature on the pathogenesis, clinical manifestations and diagnosis of the spinal and bulbar muscular atrophy. We present a case report of the spinal and bulbar muscular atrophy with a clinical findings resembling metabolic myopathy.https://nmb.abvpress.ru/jour/article/view/376спинально-бульбарная мышечная атрофиясбмаболезнь кеннедиболезнь мотонейронамиопатиямультисистемное поражениепатогенез |
| spellingShingle | E. O. Ivanova E. Yu. Fedotov S. N. Illarioshkin Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report Нервно-мышечные болезни спинально-бульбарная мышечная атрофия сбма болезнь кеннеди болезнь мотонейрона миопатия мультисистемное поражение патогенез |
| title | Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report |
| title_full | Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report |
| title_fullStr | Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report |
| title_full_unstemmed | Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report |
| title_short | Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report |
| title_sort | spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement literature review and a case report |
| topic | спинально-бульбарная мышечная атрофия сбма болезнь кеннеди болезнь мотонейрона миопатия мультисистемное поражение патогенез |
| url | https://nmb.abvpress.ru/jour/article/view/376 |
| work_keys_str_mv | AT eoivanova spinalandbulbarmuscularatrophyasamultisystemdiseasewithmotorneuronandmuscleinvolvementliteraturereviewandacasereport AT eyufedotov spinalandbulbarmuscularatrophyasamultisystemdiseasewithmotorneuronandmuscleinvolvementliteraturereviewandacasereport AT snillarioshkin spinalandbulbarmuscularatrophyasamultisystemdiseasewithmotorneuronandmuscleinvolvementliteraturereviewandacasereport |