HEARING-LOSS IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
HEARING-LOSS IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
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DOI：
10.1212/wnl.41.12.1878
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发表时间：
1991-12-01
期刊：
影响因子：
9.9
通讯作者：
GROTE, JJ
中科院分区：
文献类型：
--
作者：
BROUWER, OF;PADBERG, GW;GROTE, JJ
面肩肱型肌营养不良症 (FSHD) 与感音神经性听力损失和视网膜异常同时发生，可能意味着 FSHD 存在遗传异质性。 我们对 56 名常染色体显性 FSHD 患者和 72 名健康家庭成员进行了听力筛查，发现 FSHD 患者在 4,000 Hz 和 6,000 Hz 之间的听力水平差异显着大于对照组，左耳和右耳均独立。 我们的结论是，这种听力功能的改变是疾病的一部分，可能会导致某些患者出现严重的听力损失。 事实上，它存在于所有家庭中，这是反对遗传异质性的另一个论据。
The coincidence of facioscapulohumeral muscular dystrophy (FSHD) with sensorineural hearing loss and retinal abnormalities might imply genetic heterogeneity of FSHD. We performed screening audiometry in 56 patients with autosomal dominant FSHD and in 72 healthy family members, and found that the difference in hearing level between 4,000 Hz and 6,000 Hz was significantly greater in FSHD patients than in controls, independently both for the left and right ear. We conclude that this change of hearing function is part of the disease and may lead to severe hearing loss in some patients. The fact that it was present in all families is another argument against genetic heterogeneity.