Yamanaka Gaku, Goto Kanako, Ishihara Tadayuki, Oya Yasushi, Miyajima Tasuku, Hoshika Akinori, Nishino Ichizo, Hayashi Yukiko K
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan.
J Neurol Sci. 2004 Apr 15;219(1-2):89-93. doi: 10.1016/j.jns.2003.12.010.
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive weakness and wasting of facial, shoulder-girdle and upper arm muscles. Despite of the characteristic clinical features, the diagnosis of FSHD is sometimes difficult because clinical symptoms are extremely variable including facial sparing type, limb-girdle type, and distal myopathy type. Most of the FSHD patients have a deletion in the subtelomeric region of chromosome 4q35 (FSHMD1A), however the linkage analysis in some families suggested genetic heterogeneity. In the present study, we identified 40 patients without a deletion in the 4q35 region (non-4q35del) among 200 Japanese patients who were clinically suspected to have FHSD. All non-4q35del patients had shoulder-girdle weakness and 75% also had facial weakness. Eight patients showed clinical features that were indistinguishable from FSHD, but two of them had Becker muscular dystrophy. FSHD is clinically, and most likely genetically, as well, variable. Other forms of muscular dystrophy can also mimic FSHD.
面肩肱型肌营养不良症（FSHD）的特征是面部、肩胛带和上臂肌肉进行性无力和萎缩。尽管有典型的临床特征，但FSHD的诊断有时仍很困难，因为临床症状变化极大，包括面部保留型、肢带型和远端肌病型。大多数FSHD患者在染色体4q35的亚端粒区域存在缺失（FSHMD1A），然而一些家族的连锁分析表明存在遗传异质性。在本研究中，我们在200例临床疑似患有FHSD的日本患者中，鉴定出40例在4q35区域无缺失的患者（非4q35del）。所有非4q35del患者均有肩胛带无力，75%的患者也有面部无力。8例患者表现出与FSHD难以区分的临床特征，但其中2例患有贝克尔肌营养不良症。FSHD在临床以及很可能在遗传方面也是多变的。其他形式的肌营养不良症也可能模仿FSHD。
