Abstract Details

Title Progressive Hearing Loss in Facioscapulohumeral Muscular Dystrophy Is Associated with Short EcoRI-BlnI Fragments

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) S05 - (-)

Poster/Presentation
Number 003

Objective

Background FSHD is an autosomal dominant muscular dystrophy caused by 4q35 deletions, with larger deletions associated with an earlier onset. Based on case reports, early onset FSHD is also associated with extramuscular features including sensorineural hearing loss. There are limited reports on the correlation with deletion size, progression of hearing loss over time, or diagnosis by newborn hearing screening.

Design/Methods Data were abstracted through a retrospective chart review of all patients with a clinical or genetic diagnosis of FSHD seen in the University of Iowa MDA clinic in the past 4 years. Logistic regression was used to correlate hearing loss with EcoRI-BlnI size.

Results Ten of the 55 individuals (18%) with FSHD had documented hearing loss of unknown cause. The age at diagnosis of hearing loss ranged from birth to 8 years. Only one patient in our study was identified by newborn hearing screening. We found a statistically significant negative association between EcoRI-BlnI fragment size and the presence of hearing loss. The mean 4q35 EcoRI-BlnI fragment size of our patients with hearing loss was 12.9kb (9-18kb) and the mean for those without hearing loss was 21.3kb (13-33kb). Most patients had a bilateral, sloping, high frequency sensorineural hearing loss and hearing loss was progressive in those with serial audiometry reports.

Conclusions Individuals with FSHD are at risk for childhood-onset bilateral, progressive, high frequency hearing loss. The risk is higher in those with larger 4q35 deletions. The results support serial hearing screening in patients with FSHD caused by smaller EcoRI-BlnI fragment sizes.

Authors/Disclosures
Katie Lutz, MD (University of Iowa) PRESENTER	No disclosure on file
	No disclosure on file
Katherine D. Mathews, MD, FAAN (University of Iowa - Dept of Pediatrics)	Dr. Mathews has received personal compensation for serving as an employee of Avidity Bioscience. The institution of Dr. Mathews has received research support from NIH. The institution of Dr. Mathews has received research support from Centers for Disease Control and Prevention. The institution of Dr. Mathews has received research support from Muscular Dystrophy Association . The institution of Dr. Mathews has received research support from Friedreich's Ataxia Research Alliance . The institution of Dr. Mathews has received research support from Sarepta . The institution of Dr. Mathews has received research support from Pfizer. The institution of Dr. Mathews has received research support from Reata . The institution of Dr. Mathews has received research support from PTC Therapeutics, Inc. The institution of Dr. Mathews has received research support from Italfarmaco . The institution of Dr. Mathews has received research support from AMO. The institution of Dr. Mathews has received research support from FibroGen. The institution of Dr. Mathews has received research support from Capricor. The institution of Dr. Mathews has received research support from edgewise. The institution of Dr. Mathews has received research support from biogen.
David S. Liebeskind, MD, FAAN (Neurovascular Imaging Research Core at UCLA)	Dr. Liebeskind has received research support from Cerenovus. Dr. Liebeskind has received research support from Genentech . Dr. Liebeskind has received research support from Medtronic. Dr. Liebeskind has received research support from Stryker.

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