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Abstract：
A 25-year-old male patient presented with periodic paralysis that increased in severity and frequency with age, accompanied with muscle pain and significantly elevated creatine kinase (CK) levels. Initial clinical and genetic examination confirmed Andersen-Tawil syndrome. Although his father carried the same genetic mutation (p.G300A), he experienced minor and infrequent attacks of paralysis. A change in the patient\'s symptoms, such as accompanying pain, contracture, and significant CK elevation, lead to a reconsideration of the diagnosis. A muscle biopsy of the biceps brachii in the patient revealed glycogen storage, but no tubular aggregates. Analysis of the phosphorylase kinase regulatory subunit alpha 1 (PHKA1) gene revealed a pathogenic mutation (p.C1082X), indicating glycogen storage disease type Ⅸd. The case demonstrates that co-occurrence of glycogen storage disease type Ⅸd may prolong attacks of muscle weakness, and cause serious muscle pain in patients with Andersen-Tawil syndrome.
摘要：
一名25岁的男性患者出现周期性瘫痪，其严重程度和频率随年龄增加而增加，伴有肌肉疼痛和肌酸激酶（CK）水平显着升高。最初的临床和遗传检查证实了Andersen-Tawil综合征。尽管他的父亲携带了相同的基因突变（p。G300A),他经历了轻微和罕见的瘫痪发作。病人症状的改变,如伴随疼痛，挛缩,和显著的CK高程，导致重新考虑诊断。患者肱二头肌的肌肉活检显示糖原储存，但没有管状聚集体。对磷酸化酶激酶调节亚基α1（PHKA1）基因的分析揭示了致病性突变（p.C1082X),指示糖原贮积病型IXd.该病例表明，糖原贮积病IXd型的同时发生可能会延长肌肉无力的发作，并引起Andersen-Tawil综合征患者严重的肌肉疼痛.
