Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism

Muscle & Nerve
Atle MelbergE Stålberg

Abstract

Sixteen members of a family with a history of autosomal dominant progressive external ophthalmoplegia (adPEO) with hypogonadism were examined. The muscular involvement commenced cranially and descended in relation to increasing disease duration. The neuromuscular signs were PEO, dysarthria, dysphonia, limb muscle weakness with wasting, absence of Achilles tendon reflexes, and distal vibration sensory loss. The electromyogram (EMG) was myopathic in facial and proximal limb muscles. Neurogenic involvement was suspected in a few tibial anterior muscles. Neurography showed signs of axonal neuropathy correlated to clinical signs. F-responses were reduced in number or absent in peroneal nerves, and did not correlate to clinical signs or disease duration. Muscle biopsies in advanced cases had structural abnormalities of mitochondria, ragged-red fibers, and focal cytochrome c oxidase deficiency. A combination of muscle-nerve involvement with PEO, Achilles tendon areflexia, distal vibration sensory impairment, myopathic EMG, and abnormally low sural nerve responses seems to be typical of this type of mitochondrial disorder.

References

Jul 1, 1978·Acta Neurologica Scandinavica·L A BastiaensenV W van Hinsbergh
Aug 1, 1986·Annals of Neurology·C YiannikasJ Baverstock
Feb 1, 1987·Journal of the Neurological Sciences·G PezeshkpourJ McBurney
Oct 1, 1986·Brain : a Journal of Neurology·R K PettyJ A Morgan-Hughes
Jun 1, 1985·Annals of Neurology·S DiMauroD C DeVivo
Mar 1, 1980·Annals of Neurology·J M PeyronnardL Marchand
Jan 1, 1982·European Neurology·F GemignaniE Govoni
Jun 1, 1995·Electroencephalography and Clinical Neurophysiology·E StålbergM Aström
Apr 1, 1993·Brain : a Journal of Neurology·A OldforsE Holme
Jan 1, 1962·Acta Neurologica Scandinavica. Supplementum·T BROMAN
Jan 1, 1962·Acta Neurologica Scandinavica·P O Lundberg

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Citations

Jun 1, 2005·Gene·Antonella Spinazzola, Massimo Zeviani
Apr 30, 1998·The Japanese Journal of Human Genetics·S DiMauro, K Tanji
Sep 1, 2007·The Journal of Biological Chemistry·Katrina N BadenKaren Guillemin
Jan 8, 2013·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Abdulaziz Alsemari
Feb 17, 2001·Muscle & Nerve·R A Nardin, D R Johns
Jul 8, 2000·Brain Pathology·M Hirano, T H Vu
Aug 11, 2016·Scientific Reports·Amy E VincentMartin Picard
Jun 1, 1997·Annals of Medicine·A Suomalainen
Aug 5, 2000·Science·J KaukonenA Suomalainen

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