Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions
Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions
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DOI：
10.1111/j.1468-1331.2008.02314.x
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发表时间：
2008-12-01
影响因子：
5.1
通讯作者：
Comacchio, F.
中科院分区：
文献类型：
--
作者：
Trevisan, C. P.;Pastorello, E.;Comacchio, F.
伴有异常大的4q35缺失的面肩肱骨肌营养不良（FSHD）患者在儿童早期往往表现出非典型特征。我们研究了具有非常短的4q35片段（10-13 kb）的患者的临床表现，重点是听力损失，这是一种仍有争议的FSHD肌肉外表现。我们评估了6例EcoRI 4q35片段大小从10到13 kb不等的病例。通过耳镜、听力学和听觉诱发脑干反应（ABR）评估听力功能。将患者数据与文献中报道的28例类似受试者的数据进行比较。感音神经性听力损失4例，表现为婴儿期发病的营养不良表型。其中3人的听力损失与智力迟钝有关，2人与癫痫有关。另外两例听力轻度受损。如果考虑到迄今为止报告的28例类似病例的相关发现，68%的受试者出现明显的听觉障碍。听力损失是4q35大缺失的FSHD患者的一个特征。此外，当仅考虑10-11 kb的病例时，它似乎与早发性营养不良表型、智力迟钝（92%）和可能与癫痫（58%）有关。
Patients affected by facioscapulohumeral muscular dystrophy (FSHD) with unusual large 4q35 deletions tend to present atypical features in early childhood. We explored the clinical presentation of patients with a very short 4q35 fragment (10-13 kb) focusing on hearing loss, a still debated FSHD extramuscular manifestation.We evaluated six cases with EcoRI 4q35 fragment size ranging from 10 to 13 kb. Assessment of hearing function was carried out by otoscopy, audiometry and auditory-evoked brainstem responses (ABR). Patient data were compared with those of 28 similar subjects reported in the literature.Sensorineural hearing loss was found in four patients, who presented infantile-onset dystrophic phenotype. Hearing loss was associated with mental retardation in three of them and with epilepsy in two. Auditory ability of the other two cases was mildly impaired. If findings related to 28 similar cases reported to date are also considered, auditory impairment appears evident in 68% of these subjects.Hearing loss represents a characteristic feature of FSHD patients with a large 4q35 deletion. Moreover, when considering only cases with 10-11 kb, it appears to be associated with early-onset dystrophic phenotype, with mental retardation (92%) and possibly with epilepsy (58%).