Effects of Telerehabilitation in Niemann Pick Disease Type B: A Case Report

Purpose: The aim of this study was to investigate the effects of a 12-week telerehabilitation on muscle strength, range of motion, motor performance and pulmonary function in a patient with Niemann Pick Disease Type B (NPD-B).

Method: A 13-year-old boy diagnosed with NPD-B participated in the study and underwent a telerehabilitation program for 12 weeks, three sessions per week, each session lasting 60 minutes. The 6-minute walk test (6-MWT) and timed performance tests were used to determine motor function. The patient's range of motion (ROM) was measured using a goniometer. Muscle shortness was evaluated using a tape measure or a goniometer. Muscle strength was assessed using myometric measurement. Spirometry test was used to measure pulmonary function. Assessments were applied before and after the telerehabilitation program.

Results: A 61-meter increase was observed in the 6-MWT. The patient's right and left hip flexor muscle shortness improved by 7.0 and 9.0 degrees, respectively. Improvements were also observed in gastrocnemius muscle shortness (right 12, left 7 degrees). Knee extension and left ankle dorsiflexion reached normal ROM. The right shoulder, left shoulder, right hip, and left hip flexion muscle strength of the patient increased by 6.0, 6.0, 8.4, and 11.6 pounds, respectively. The patient’s forced expiratory volume in one second/forced vital capacity ratio (FEV1/FVC) value was 87% before the telerehabilitation program and 89% after the telerehabilitation program. No side effects were reported during the telerehabilitation program.

Discussion: These findings suggest that 12-week telerehabilitation program can be used as a treatment method that contributes to the management of Niemann-Pick Disease Type B (NPD-B) in addition to medical treatments. However, controlled studies with a larger number of participants in this disease are needed.

Key Words: Telerehabilitation, Physiotherapy, Niemann Pick Disease Type B, Outcome Measurement.