We report a patient with early onset facioscapulohumeral muscular dystrophy type 1 (FSHD1) who was not diagnosed until 48 years of age. She developed progressive facial diplegia from the age of 4-5 years followed by limb muscle weakness. Motor nerve conduction was normal, myopathic changes were seen electromyographically. Creatine kinase activity was mildly increased at the beginning. Muscle biopsy at 8 years suggested a neurogenic pattern, a second biopsy at age 30 was chronic myopathic with fibre calibre variation. The patient lost the ability to walk at age 44. When last seen she had total facial diplegia, no active movements in her limbs, mild kyphoscoliosis and a rigid thoracic spine. Molecular studies revealed a shortened D4Z4 fragment confirming the diagnosis FSHD1. Her family history was unremarkable, suggesting a de novo mutation. This report is to illustrate the evolving phenotype of early onset FSHD1 with predominating facial palsy.

中文翻译：

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早发性面肩肱型肌营养不良症——一例面部双瘫患者的长期随访

我们报告了一名早发性面肩肱型肌营养不良症 1 型 (FSHD1) 的患者，该患者直到 48 岁才被诊断出来。她从 4-5 岁开始出现进行性面部双瘫，随后肢体肌肉无力。运动神经传导正常，肌电图可见肌病性改变。肌酸激酶活性在开始时轻度增加。8 岁时的肌肉活检提示神经源性模式，30 岁时的第二次活检是慢性肌病，纤维管径变异。患者在 44 岁时丧失行走能力。最后一次见面时，她面部完全瘫痪，四肢没有主动运动，轻度脊柱后凸和胸椎僵硬。分子研究揭示了一个缩短的 D4Z4 片段，证实了 FSHD1 的诊断。她的家族史并不显着，表明是新发突变。