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- Title
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism.
- Authors
Melberg, Atle; Lundberg, Per Olov; Henriksson, Karl G.; Olsson, Yngve; Stålberg, Erik; Melberg, A; Lundberg, P O; Henriksson, K G; Olsson, Y; Stålberg, E
- 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.
- Subjects
MOTOR neurons; SENSORY neurons; BIOPSY; COMPARATIVE studies; ELECTRON microscopy; GENEALOGY; GENES; GENETIC techniques; HYPOGONADISM; RESEARCH methodology; MEDIAN nerve; MEDICAL cooperation; NEURAL conduction; PERONEAL nerve; RADIAL nerve; RESEARCH; TIBIAL nerve; ULNAR nerve; EVALUATION research; SKELETAL muscle; CHRONIC progressive external opthalmoplegia; PHYSIOLOGY
- Publication
Muscle & Nerve, 1996, Vol 19, Issue 6, p751
- ISSN
0148-639X
- Publication type
journal article
- DOI
10.1002/(SICI)1097-4598(199606)19:6<751::AID-MUS10>3.0.CO;2-O