Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep
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Adult-onset Alexander disease (AOAD) is clinically characterized by slowly progressive bulbar palsy, pyramidal signs, spastic paresis and cerebellar ataxia with atrophy of the medulla oblongata and upper cervical cord, and the glial fibrillary acidic protein (GFAP) gene has been identified to be the causative gene for Alexander disease . So far, some reports have mentioned that AOAD presents with sleep apnea [1, 4, 5, 8, 9, 10, 12], but the apnea mechanism is not sufficiently known. Here, we report an AOAD patient presented with vocal cord paralysis during sleep. This is the first report indicating that AOAD presented with vocal cord abductor paralysis, followed by the rapid progression of vocal cord dysfunction.
KeywordsObstructive Sleep Apnea Glial Fibrillary Acidic Protein Vocal Cord Obstructive Sleep Apnea Syndrome Multiple System Atrophy
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Conflicts of interest
Awake-laryngofiberscopy showed mild abduction restriction during inspiration and glottic stenosis during expiration. (MP4 3717 kb)
After intravenous diazepam (5 mg) administration, the bilateral vocal cords were almost fixed in the paramedian position, and only a 1-mm hole remained during inspiration. (MP4 4344 kb)
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