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.
Neurology. 2018 Feb 13;90(7):e615-e622. doi: 10.1212/WNL.0000000000004963. Epub 2018 Jan 17.
To systematically assess auditory characteristics of a large cohort of patients with genetically confirmed myotonic dystrophy type 2 (DM2).
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.
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 ( < 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.
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.
系统评估大量经基因证实的 2 型肌强直性营养不良（DM2）患者的听觉特征。
前瞻性纳入 DM2 患者参与一项国际横断面研究。进行关于听力症状的结构化访谈。然后，进行标准化耳科检查、纯音听力测试（PTA；0.25、0.5、1、2、4 和 8 kHz）、言语测听、鼓室图、声导抗中耳肌反射和脑干听觉诱发电位（BAEP）。使用 ISO 7029 标准，根据性别和年龄，将 PTA 结果与既定的一般人群听力阈值进行比较。
纳入 31 名荷兰和 25 名法国 DM2 患者（61%为女性），平均年龄为 57 岁（范围 31-78 岁）。与正常人群的第 50 百分位数相比，DM2 队列的所有测量频率的听力阈值中位数均较高（<0.001）。DM2 患者中有 39%听力损伤为轻度，21%为中度，2%为重度。PTA 无气骨导间隙、PTA 与言语测听结果一致且 BAEP 正常，提示感觉神经性听力损伤位于耳蜗。听力损伤与年龄之间存在显著相关性，即使校正了老年性聋。
耳蜗感觉神经性听力损伤是 DM2 患者的常见症状，提示早期老年性聋。因此，我们建议当怀疑听力受损时，告知听力受损并及时进行听力测试，以便在需要时及早进行听力康复，包括使用助听器。
