A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline

oleh: D. Taylor, H. R. Haynes, A. Graham, S. Gerhand, K. M. Kurian

Format: Article
Diterbitkan: Hindawi Limited 2013-01-01

Deskripsi

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.