NIEMANN PİCK HASTALIĞI TİP B'DE TELEREHABİLİTASYONUN ETKİSİ: BİR OLGU SUNUMU

Year 2026, Volume: 4 Issue: 1, 30 - 36, 23.01.2026

Aslı Bayram , Hacer Sultan Öztürk , Ali Naim Ceren , İpek Gürbüz , Öznur Tunca Yılmaz , Numan Bulut

Abstract

Amaç: Bu çalışmanın amacı, Niemann Pick Hastalığı Tip B (NPD-B) hastasında 12 haftalık telerehabilitasyon programının kas kuvveti, hareket açıklığı, motor performans ve solunum fonksiyonu üzerindeki etkilerini araştırmaktı.
Yöntem: NPD-B tanısı konulan 13 yaşındaki bir erkek çocuk çalışmaya katıldı ve 12 hafta boyunca haftada üç seans, her seans 60 dakika süreyle telerehabilitasyon programı uygulandı. 6 dakikalık yürüme testi (6-MWT) ve süreli performans testleri motor fonksiyonu belirlemek için kullanıldı. Hastanın hareket açıklığı (ROM) gonyometre kullanılarak ölçüldü. Kas kısalığı, mezura ve gonyometre kullanılarak değerlendirildi. Kas gücü, miyometrik ölçümle değerlendirildi. Spirometri testi, pulmoner fonksiyonu ölçmek için kullanıldı. Değerlendirmeler, telerehabilitasyon programı öncesinde ve sonrasında uygulandı.
Sonuçlar: 6-MWT'de 61 metrelik bir artış gözlendi. Hastanın sağ ve sol kalça fleksör kas kısalığı sırasıyla 7,0 ve 9,0 derece düzeldi. Gastroknemius kas kısalığında da iyileşmeler gözlendi (sağ 12, sol 7 derece). Diz ekstansiyonu ve sol ayak bileği normal ROM'a ulaştı. Hastanın sağ omuz, sol omuz, sağ kalça ve sol kalça fleksiyon kas gücü sırasıyla 6,0, 6,0, 8,4 ve 11,6 pound arttı. Hastanın bir saniyedeki zorlu ekspiratuar hacim/zorlu vital kapasite oranı (FEV1/FVC) değeri telerehabilitasyon öncesinde %87, telerehabilitasyon sonrasında ise %89 idi. Telerehabilitasyon programı sırasında herhangi bir yan etki gözlenmedi.
Sonuç: Bu bulgular, 12 haftalık telerehabilitasyon programının tıbbi tedavilere ek olarak Niemann-Pick Hastalığı Tip B (NPD-B) yönetimine katkıda bulunan bir tedavi yöntemi olarak kullanılabileceğini göstermektedir. Ancak, bu hastalıkta daha fazla sayıda katılımcıyla kontrollü çalışmalara ihtiyaç duyulmaktadır.

Keywords

telerehabilitasyon , fizyoterapi , Niemann Pick Hastalığı Tip B , Sonuç Ölçümü

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

Abstract

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.

Keywords

Telerehabilitation , Niemann Pick Disease Type B , Physiotherapy , Outcome Measurement

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