Electrodiagnostic studies in the diagnosis of Hirayama disease: a focus on early identification.

Abstract

Hirayama disease is a rare neurological disorder primarily affecting young males. This condition poses diagnostic challenges due to its subtle onset and progressive nature. Recognising the importance of early diagnosis is crucial to implementing timely interventions and improving patient outcomes. While Hirayama disease is considered rare, its exact prevalence remains unclear due to under-diagnosis and variability in presentation. Reported cases are more common in certain regions, notably East Asia, but occurrences have been documented worldwide. Despite its rarity, the impact of Hirayama disease on affected individuals can be significant, warranting increased awareness among healthcare professionals.The key message of this case report is to highlight the utility of electrodiagnostic studies, particularly electromyography and F wave analysis, in aiding the diagnosis of Hirayama disease. By emphasising the significance of recognising specific electromyographic patterns, this report aims to facilitate early identification and intervention, thereby improving patient management and quality of life.