Integrating Aquatic Therapy and Schroth-Based Exercise in Selenoprotein N-Related Myopathy (Sepn1-Related Myopathy): A Case Report

Background: Selenoprotein N-related myopathy is a rare congenital neuromuscular disorder characterized by axial muscle weakness, progressive spinal deformity, and early respiratory compromise. Progressive kyphoscoliosis further contributes to restrictive lung dysfunction. Evidence regarding long-term physiotherapy management, particularly aquatic therapy, remains limited. We report a 10-year-old female diagnosed with SEPN1-related myopathy who has been receiving continuous physiotherapy since infancy. The child developed progressive thoracic kyphoscoliosis with Cobb's angle progression from 60° to 80°, associated with reduced lung capacity requiring nocturnal BiPAP support. Rehabilitation consisted of structured physiotherapy with primary emphasis on aquatic therapy, including breath control training, trunk activation, endurance conditioning, and Ai Chi techniques. Land-based Physiotherapeutic Scoliosis Specific Exercises (PSSE) using the Schroth method were used as an adjunct. Outcome measures included incentive spirometry, Pediatric Quality of Life Inventory (PedsQL), and Water Orientation Test Alyn-2 (WOTA-2). Inspiratory capacity improved from 600 cc maintaining up to 1000 cc. This case highlights the role of long-term physiotherapy, particularly aquatic therapy, in preserving respiratory function and functional independence in progressive neuromuscular disorders.