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Muscle‐nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism
Author(s) -
Melberg Atle,
Lundberg Per Olov,
Henriksson Karl G.,
Olsson Yngve,
Stålberg Erik
Publication year - 1996
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(199606)19:6<751::aid-mus10>3.0.co;2-o
Subject(s) - external ophthalmoplegia , medicine , chronic progressive external ophthalmoplegia , physical medicine and rehabilitation , clinical neurology , anatomy , endocrinology , neuroscience , psychology , mitochondrial myopathy , biology , genetics , gene , mitochondrial dna
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. © 1996 John Wiley & Sons, Inc.