Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy

Katie L LUTZ; Lenore HOLTE; Stephanie A KLIETHERMES; Carrie STEPHAN; Katherine D MATHEWS

doi:10.1212/WNL.0b013e3182a84140

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Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy

Journal article

Open access

Peer reviewed

Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy

Katie L LUTZ, Lenore HOLTE, Stephanie A KLIETHERMES, Carrie STEPHAN and Katherine D MATHEWS

Neurology, Vol.81(16), pp.1374-1377

2013

DOI: 10.1212/WNL.0b013e3182a84140

PMCID: PMC3806909

PMID: 24042093

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https://europepmc.org/articles/pmc3806909View

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Abstract

Objective: To describe the hearing loss in facioscapulohumeral muscular dystrophy (FSHD) and examine the relationship to genotype. Methods: Medical records of all individuals with FSHD seen at the University of Iowa neuromuscular clinic between July 2006 and July 2012 (n = 59) were reviewed. Eleven had significant hearing loss and no non-FSHD cause. All available audiology records for these individuals were analyzed. The relationship between the FSHD mutation (EcoRI/BlnI fragment size) and hearing loss was evaluated using a logistic regression analysis. Results: In patients with hearing loss, recalled age at onset of facial weakness ranged from birth to 5 years and shoulder weakness was 3 to 15 years. The age at diagnosis of hearing loss ranged from birth to 7 years. Only 2 were identified by newborn hearing screen. Most audiograms demonstrated a bilateral, sloping, high-frequency sensorineural hearing loss. Of the 4 patients with more than 5 years of data, 3 had progression of hearing loss. Logistic regression showed statistically significant negative association between the presence of hearing loss and EcoRI/BlnI fragment size (p = 0.0207). Conclusions: FSHD with a small EcoRI/BlnI fragment is associated with a bilateral, progressive, sloping, high-frequency hearing loss with onset in childhood. Patients with FSHD and small EcoRI/BlnI fragment sizes should have hearing screened, even if the child passed newborn hearing screening.

Neurology

Otorhinolaryngology. Stomatology

Non tumoral diseases

Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology

Pharmacology. Drug treatments

Biological and medical sciences

Medical sciences

Antibacterial agents

Diseases of striated muscles. Neuromuscular diseases

Antibiotics. Antiinfectious agents. Antiparasitic agents

Details

Title: Subtitle: Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy
Creators: Katie L LUTZ - University of Iowa Carver College of Medicine, United States
Lenore HOLTE - Department of Pediatrics, University of Iowa, Iowa City, United States
Stephanie A KLIETHERMES - College of Public Health, University of Iowa, Iowa City, United States
Carrie STEPHAN - Department of Pediatrics, University of Iowa, Iowa City, United States
Katherine D MATHEWS - Department of Pediatrics, University of Iowa, Iowa City, United States
Resource Type: Journal article
Publication Details: Neurology, Vol.81(16), pp.1374-1377
DOI: 10.1212/WNL.0b013e3182a84140
PMID: 24042093
PMCID: PMC3806909
NLM abbreviation: Neurology
ISSN: 0028-3878
eISSN: 1526-632X
Publisher: Lippincott Williams & Wilkins; Hagerstown, MD
Language: English
Date published: 2013
Academic Unit: Neurology; Communication Sciences and Disorders; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984017162102771

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