Assessment of Functionality of Patients with Type IV Spinal Muscular Atrophy Treated with Spinraza: A Study with use of the Timed Up and Go Test, the Six-Minute Walk Test, the Hammersmith Functional Motor Scale, and Stabilometric Platform Test

Participants were taking Spinraza outside of the study. HFMSE, 6MWT and Stabilometric Platform Analysis were performed once per every 4 months. TUG was performed 3 times and the shortest time was considered the representative result. All patients were already undergoing treatment, and the observation period in the present study was 8 months. The assessments had a total duration ranging from 50 to 80 minutes. Functional assessments were carried out in the following order: 1. Hammersmith Functional Motor Scale Expanded (HFMSE) 2. Six-Minute Walk Test (6MWT) 3. Timed Up and Go Test (TUG) 4. Stabilometric Platform Analysis Assessment Tools 1. Hammersmith Functional Motor Scale Expanded (HFMSE) The HFMSE was administered according to the official Procedure Manual. The scale includes 33 items, each scored from 0 to 2 points: 0 = unable to perform the task, 1 = partially completes the task, 2 = completes the task according to the instruction. The maximum score is 66 points. The test was conducted under standardized conditions in a hospital gymnasium. Each task was demonstrated by the examiner, and the patient was given one or two attempts. Testing duration ranged from 15 to 30 minutes, depending on the patient's functional level. The HFMSE assesses motor performance in lying, sitting, and standing positions, and includes tasks involving mobility and transfers. Equipment used: Physiotherapy examination table Gymnastic mat Stopwatch (iPhone 8 stopwatch) Staircase with handrail (minimum 4 steps) Procedure Manual – HFMSE Measuring tape and ruler 2. Six-Minute Walk Test (6MWT) The 6MWT was conducted under controlled hospital conditions, along a straight, uninterrupted, 25-meter course. The patient was instructed to walk (not run) as far as possible within 6 minutes. Time was measured with a stopwatch, and verbal cues regarding the remaining time were given. Patients were allowed to stop and rest if needed, but the clock was not paused. To track progress more precisely, distance covered was recorded at one-minute intervals. All tests were performed under identical conditions to minimize external influences. The course length followed American Thoracic Society (ATS) guidelines. Equipment used: Stopwatch (iPhone 8 stopwatch) Measuring tape Result recording form Two traffic cones marking the 25-meter distance Pulse oximeter Blood pressure monitor 3. Timed Up and Go Test (TUG) The TUG test assessed functional mobility through the following procedure: The patient sat in a chair with back support. On the command "start," the patient stood up, walked 3 meters, turned around, walked back, and sat down. Each patient performed 3 trials, timed in seconds. The shortest time was considered the representative result. All tests were conducted in identical conditions to ensure consistency and reliability. Equipment used: Chair with backrest (height: 46 cm, width: 47 cm, depth: 40 cm) Stopwatch (iPhone 8 stopwatch) Traffic cone marking the walking distance Measuring tape Assessment sheet for recording patient data, results, and observations Interpretation of results: <10 seconds: normal performance 10–20 seconds: increased fall risk 20 seconds: significant locomotor impairment, indicating reduced functional independence 4. Stabilometric Platform Assessment The balance assessment was conducted using a dual-plate stabilometric platform (Koordynacja), performing Romberg tests with eyes open and closed. Patients stood barefoot on the platform, arms alongside the body, for 30 seconds with eyes open, then repeated with eyes closed. The platform software analyzed center of pressure (CoP) sway and generated a report including: Parameters analyzed: Length of statokinesiogram Mean sway Maximum sway Mean velocity Sway area Length/Area ratio Mean frequency % time within 5mm radius circle Number of postural corrections Romberg ratio parameters: Sway length Sway area Mean velocity Length/Area ratio