[面肩肱型肌营养不良症患者耳聋的研究]

[The study of deafness in patients with facioscapulohumeral dystrophy].

作者信息

Sánchez-Alcón M D, Pérez Garrigues H, Vílchez J, Casanova B, Morera C

机构信息

Servicio de ORL, Hospital Universitario La Fe, Valencia.

出版信息

Acta Otorrinolaringol Esp. 1994 Mar-Apr;45(2):79-82.

PMID:8086213

Abstract

We studied 40 members of 12 families with FSHD, 23 symptomatic and 17 healthy. Tonal audiometry was done at a 4-year interval. Brainstem evoked potentials were recorded. The auditory function of healthy subjects was normal. Ten patients (25%) had sensorineural deafness, all bilateral; 2 were from one family and 3 from another. The significant incidence of deafness in this series of FSHD (p < 0.05) shows that deafness is an important feature of FSHD. Deafness did not seem to be related with the intensity of muscular symptoms. The pathogenesis of the disorder is unknown, but it is thought to be related to a mechanism of neural degeneration or of immunologic abnormality (Coat's syndrome).

摘要

我们研究了12个患有面肩肱型肌营养不良（FSHD）家族的40名成员，其中23人有症状，17人健康。每隔4年进行一次纯音听力测定，并记录脑干诱发电位。健康受试者的听觉功能正常。10名患者（25%）患有感音神经性耳聋，均为双侧；其中2名来自一个家族，3名来自另一个家族。在这一系列FSHD中，耳聋的发生率显著（p < 0.05），表明耳聋是FSHD的一个重要特征。耳聋似乎与肌肉症状的严重程度无关。该疾病的发病机制尚不清楚，但据认为与神经变性或免疫异常机制（Coat综合征）有关。