Frequency and Circumstances of Falls Events in People Living With Spinal and Bulbar Muscular Atrophy: A Cross‐Sectional Survey
Abstract
BACKGROUND AND PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an adult-onset X-linked neuromuscular disorder associated with progressive weakness, sensory involvement and impaired mobility. Falls appear frequent in SBMA, but their real-world frequency and circumstances have not been systematically described. This study investigated the frequency, context and perceived causes of falls and near-falls in adults with SBMA. METHODS: A cross-sectional survey was conducted in adults with genetically confirmed SBMA attending a UK specialist clinic. Participants completed a modified Falls Events Questionnaire, reporting fall and near-fall frequency over the previous 12 months and describing up to three events of each type. Participant-level analyses described prevalence and frequency, while event-level analyses descriptively summarised circumstances. RESULTS: Of 83 questionnaires distributed, 61 were returned (73.5%). 55 participants (90%) reported at least 1 fall and 42 (69%) reported falls at least monthly; 51 (84%) reported at least one near-fall. The 55 fallers described 153 fall events (up to three per participant). At event level, most occurred indoors (58%) and during walking, reaching/bending or turning. Participants most commonly attributed falls to muscle weakness (44%), tripping (18%) and loss of balance (17%). Bruising and sprain/strain were common, while fractures were rare (2%). The 51 participants reporting near-falls described 153 events; walking was the most common activity at the time of the near-fall, and grabbing a stable surface was the most commonly reported strategy used to avert a fall. DISCUSSION: Falls and near-falls were frequently reported in this SBMA cohort and commonly occurred during everyday mobility tasks. Participants most often attributed events to weakness, loss of balance and tripping. These descriptive findings support greater clinical attention to falls in SBMA and may inform assessment and rehabilitation priorities, while prospective studies are needed to establish mechanisms and intervention effectiveness.
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Authors: Laurence Edward Lee, Luca Zampedri, Dipa Jayaseelan, Carlo Rinaldi, Pietro Fratta, Gita Ramdharry
Institutions: University of Oxford, University College London, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust