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.

中文翻译：

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肌肉无力反复发作的罕见病例：Andersen-Tawil 综合征和糖原贮积病 IXd 型同时发生

一名 25 岁男性患者出现周期性麻痹，其严重程度和频率随年龄增长而增加，伴有肌肉疼痛和肌酸激酶 (CK) 水平显着升高。最初的临床和基因检查证实了 Andersen-Tawil 综合征。尽管他的父亲携带相同的基因突变（p.G300A），但他经历了轻微且罕见的瘫痪发作。患者症状的变化，例如伴随的疼痛、挛缩和显着的 CK 升高，会导致重新考虑诊断。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 α 1 (PHKA1) 基因的分析揭示了致病突变 (p.C1082X)，表明糖原贮积病类型为Ⅸd。