Key result
Immunosuppression successfully treated myotonic symptoms in a patient with systemic lupus erythematosus presenting with myotonia-like de novo myotonia congenita.
Why the study?
De novo myotonia congenita can occur without CLCN1 mutations, suggesting nongenetic etiologies, and pharmacological approaches remain poorly defined.
Case Report (n=1)
This case report suggests that de novo myotonia congenita in the setting of SLE may have an autoimmune etiology and can be successfully treated with immunosuppression.
Dear Editor, Myotonia congenita (MC) is an inherited disease of chloride channelopathy caused by mutations in CLCN1, a gene of the voltage-dependent chloride channel family, encoding the skeletal muscle ClC-1 chloride channel [1]. The hallmark of MC is a delay in relaxation of contracted skeletal muscle, leading to prolonged rigidity, stiffness and cramping [2]. Importantly, de novo MC cases caused by unknown aetiology without any obvious mutations of CLCN1 appear sporadically. Although there have been silent mutations of CLCN1 relevant to the MC development [3], the proportion is assumed to be low, suggesting the possibility of aetiology other than genetic mutations for developing MC. Furthermore, the pharmacological approach for MC remains murky due to a lack of evidence [4]. We here report a case of a patient with SLE presenting with myotonia-like de novo MC. The myotonic symptom was successfully...
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Abe et al. (2021) conducted a case report in Systemic lupus erythematosus (SLE) with myotonia-like de novo myotonia congenita (n=1). Immunosuppression was evaluated on Myotonic symptom improvement. Immunosuppression successfully treated myotonic symptoms in a patient with systemic lupus erythematosus presenting with myotonia-like de novo myotonia congenita.
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