A retrospective evaluation of delayed diagnosis and misdiagnosis in skeletal muscle ion channelopathy patients.

Objective: Skeletal muscle ion channelopathies are a rare genetically inherited orphan disease. Due to the unique characteristics of the symptoms of the disease, misdiagnosis of patients leads to irreversible losses. This study aims to raise awareness on this issue.

Methods: 35 patients with a definitive diagnosis of skeletal muscle ion channelopathy were included in the study. The diagnoses of all patients were confirmed by gene analysis. Demographic and clinical characteristics of the patients were examined. After a definitive diagnosis was made, mimic symptoms and misdiagnoses were evaluated separately.

Results: It was determined that 30 of the patients included in the study had multiple different diagnoses until they got the correct diagnosis. It is thought that due to delayed diagnosis or misdiagnosis, patients experience physical and mental loss, are exposed to ineffective drugs, and their daily lives are adversely affected, as well as serious cost losses.

Conclusions: It is stated that the names of misdiagnoses for imitation symptoms have changed with aging, and drug treatments are applied for each diagnosis. It is stated that health authorities should pay attention to this situation to reduce this.