An unusual case of recurrent episodes of muscle weakness: co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd


Andersen-Tawil syndrome (ATS) is a rare disease characterized by a triad of periodic paralysis (PP), ventricular arrhythmias, and distinctive dysmorphic abnormalities, and has an estimated prevalence of 1/100,000 [1]. The degree of ATS-related symptoms manifestation is extremely variable [2]. Episodic attacks of muscle weakness usually occur early during disease onset, which may involve all four limbs, and be associated with hypo-, normo- or hyperkalemia [3, 4]. ATS is an autosomal dominant disorder associated with mutations in the genes potassium voltage-gated channel subfamily J number 2 (KCNJ2)and potassium voltage-gated channel subfamily J number 5 (KCNJ5)genes [2, 5].


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