A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline
Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnos...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2013/125672 |
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| _version_ | 1849684709362106368 |
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| author | D. Taylor H. R. Haynes A. Graham S. Gerhand K. M. Kurian |
| author_facet | D. Taylor H. R. Haynes A. Graham S. Gerhand K. M. Kurian |
| author_sort | D. Taylor |
| collection | DOAJ |
| description | Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies. |
| format | Article |
| id | doaj-art-badd0ac9067a4e6f90b590af446609fc |
| institution | DOAJ |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-badd0ac9067a4e6f90b590af446609fc2025-08-20T03:23:23ZengWileyCase Reports in Neurological Medicine2090-66682090-66762013-01-01201310.1155/2013/125672125672A 29-Year-Old Female with Progressive Myoclonus and Cognitive DeclineD. Taylor0H. R. Haynes1A. Graham2S. Gerhand3K. M. Kurian4Department of Medicine, Bath Royal United Hospital, Bath BA1 3NG, UKDepartment of Neuropathology, Frenchay Hospital, Bristol BS16 1LE, UKDepartment of Neurological Rehabilitation, Frenchay Hospital, Bristol BS16 1LE, UKDepartment of Neuropsychology, Frenchay Hospital, Bristol BS16 1LE, UKDepartment of Neuropathology, Frenchay Hospital, Bristol BS16 1LE, UKMyoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies.http://dx.doi.org/10.1155/2013/125672 |
| spellingShingle | D. Taylor H. R. Haynes A. Graham S. Gerhand K. M. Kurian A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline Case Reports in Neurological Medicine |
| title | A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline |
| title_full | A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline |
| title_fullStr | A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline |
| title_full_unstemmed | A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline |
| title_short | A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline |
| title_sort | 29 year old female with progressive myoclonus and cognitive decline |
| url | http://dx.doi.org/10.1155/2013/125672 |
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