title: Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy.
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.
authors.affiliation: From the University of Iowa Carver College of Medicine (K.L.L.), Department of Pediatrics (L.H., C.S., K.D.M.), Department of Communication Sciences and Disorders (L.H.), College of Public Health (S.A.K.), and Department of Neurology (K.D.M.), University of Iowa, Iowa City.
authors.forename: Katie L
authors.initials: KL
authors.lastname: Lutz
authors.forename: Lenore
authors.initials: L
authors.lastname: Holte
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Kliethermes
authors.forename: Carrie
authors.initials: C
authors.lastname: Stephan
authors.forename: Katherine D
authors.initials: KD
authors.lastname: Mathews
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001299:Audiometry; D002648:Child; D015246:Deoxyribonuclease EcoRI / Q000235:genetics; D018450:Disease Progression; D006316:Hearing Loss, High-Frequency / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D016015:Logistic Models; D008875:Middle Aged; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D010641:Phenotype; D012042:Registries; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D015246:Deoxyribonuclease EcoRI
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