Report on Two Cases of Familial Restless Legs Syndrome Type 1 with Mutation and Literature Review - Abstract
Objective: The purpose of this study is to enhance the understanding of restless legs syndrome (RLS) and its variant types to reduce misdiagnosis in clinical practice. Methods: Retrospective analysis of two cases of variant RLS in a family and a review of related literature was conducted. Results: The first patient had recurrent shoulder pain for 8 years, and the mother had intermittent discomfort in both elbows and knees for more than 40 years. Both patients experienced relief of limb discomfort after activity, and the symptoms were more severe at night than during the day. After admission, RLS was diagnosed based on a comprehensive analysis, and both patients were treated with oral Pramipexole,with significant improvement in symptoms. Conclusion: Although RLS typically involves only the legs, it may also affect other parts of the body. When patients complain of abnormal discomfort in a certain part of the body during rest and have a strong desire to move which can disappear temporarily after activity but recur during rest periods, RLS or its variant should be considered in the differential diagnosis.