Paralysis Research Today is a free monthly online journal that collates and summarizes the latest research about Paralysis, including details on treatment, diagnosis, facial paralysis, sleep paralysis.

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

Schaefer AM, Blakely EL, Griffiths PG, Turnbull DM, Taylor RW

School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, United Kingdom.

We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease. In spite of normal histocytochemical cytochrome c oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic analysis revealed the presence of a single, large-scale deletion of mitochondrial DNA (mtDNA). The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings.

Published 22 June 2005 in Muscle Nerve, 32(1): 104-7.
Full-text of this article is available online (may require subscription).

© 2004-2008 Paralysis Research Today. All Rights Reserved.