Judith van Vliet1, Alide A Tieleman2, Baziel G M van Engelen2, Guillaume Bassez2, Laurent Servais2, Anthony Béhin2, Tanya Stojkovic2, Jan Meulstee2, Joost A M Engel2, George Lamas2, Bruno Eymard2, Wim I M Verhagen2, Elisabeth Mamelle2. 1. From the Departments of Neurology (J.v.V., J.M., W.I.M.V.) and Otolaryngology (J.A.M.E.), Canisius Wilhelmina Hospital; Neuromuscular Center Nijmegen, Department of Neurology (J.v.V., A.A.T., B.G.M.v.E.), Radboud University Medical Center, Nijmegen, the Netherlands; Histopathology Department (G.B.), AP-HP, GH Henri Mondor; and Neuromuscular Disorders Department, Myology Institute (L.S., A.B., T.S., B.E.), and Otolaryngology Department (G.L., E.M.), AP-HP, GH Pitié-Salpêtrière, Paris, France. J.vanVliet@cwz.nl. 2. From the Departments of Neurology (J.v.V., J.M., W.I.M.V.) and Otolaryngology (J.A.M.E.), Canisius Wilhelmina Hospital; Neuromuscular Center Nijmegen, Department of Neurology (J.v.V., A.A.T., B.G.M.v.E.), Radboud University Medical Center, Nijmegen, the Netherlands; Histopathology Department (G.B.), AP-HP, GH Henri Mondor; and Neuromuscular Disorders Department, Myology Institute (L.S., A.B., T.S., B.E.), and Otolaryngology Department (G.L., E.M.), AP-HP, GH Pitié-Salpêtrière, Paris, France.
Abstract
OBJECTIVE: To systematically assess auditory characteristics of a large cohort of patients with genetically confirmed myotonic dystrophy type 2 (DM2). METHODS: Patients with DM2 were included prospectively in an international cross-sectional study. A structured interview about hearing symptoms was held. Thereafter, standardized otologic examination, pure tone audiometry (PTA; 0.25, 0.5, 1, 2, 4, and 8 kHz), speech audiometry, tympanometry, acoustic middle ear muscle reflexes, and brainstem auditory evoked potentials (BAEP) were performed. The ISO 7029 standard was used to compare the PTA results with established hearing thresholds of the general population according to sex and age. RESULTS: Thirty-one Dutch and 25 French patients with DM2 (61% female) were included with a mean age of 57 years (range 31-78). The median hearing threshold of the DM2 cohort was higher for all measured frequencies, compared to the 50th percentile of normal (p < 0.001). Hearing impairment was mild in 39%, moderate in 21%, and severe in 2% of patients with DM2. The absence of an air-bone gap with PTA, concordant results of speech audiometry with PTA, and normal findings of BAEP suggest that the sensorineural hearing impairment is located in the cochlea. A significant correlation was found between hearing impairment and age, even when corrected for presbycusis. CONCLUSIONS: Cochlear sensorineural hearing impairment is a frequent symptom in patients with DM2, suggesting an early presbycusis. Therefore, we recommend informing about hearing impairment and readily performing audiometry when hearing impairment is suspected in order to propose early hearing rehabilitation with hearing aids when indicated.
OBJECTIVE: To systematically assess auditory characteristics of a large cohort of patients with genetically confirmed myotonic dystrophy type 2 (DM2). METHODS:Patients with DM2 were included prospectively in an international cross-sectional study. A structured interview about hearing symptoms was held. Thereafter, standardized otologic examination, pure tone audiometry (PTA; 0.25, 0.5, 1, 2, 4, and 8 kHz), speech audiometry, tympanometry, acoustic middle ear muscle reflexes, and brainstem auditory evoked potentials (BAEP) were performed. The ISO 7029 standard was used to compare the PTA results with established hearing thresholds of the general population according to sex and age. RESULTS: Thirty-one Dutch and 25 French patients with DM2 (61% female) were included with a mean age of 57 years (range 31-78). The median hearing threshold of the DM2 cohort was higher for all measured frequencies, compared to the 50th percentile of normal (p < 0.001). Hearing impairment was mild in 39%, moderate in 21%, and severe in 2% of patients with DM2. The absence of an air-bone gap with PTA, concordant results of speech audiometry with PTA, and normal findings of BAEP suggest that the sensorineural hearing impairment is located in the cochlea. A significant correlation was found between hearing impairment and age, even when corrected for presbycusis. CONCLUSIONS: Cochlear sensorineural hearing impairment is a frequent symptom in patients with DM2, suggesting an early presbycusis. Therefore, we recommend informing about hearing impairment and readily performing audiometry when hearing impairment is suspected in order to propose early hearing rehabilitation with hearing aids when indicated.