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

✍ Scribed by Atle Melberg; Per Olov Lundberg; Karl G. Henriksson; Yngve Olsson; Erik Stålberg

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
774 KB
Volume
19
Category
Article
ISSN
0148-639X

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✦ Synopsis

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 tibia1 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 deficency. 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. 0

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