Öz
Ataxia Telangiectasia is a rare autosomal recessive disease characterized by progressive neurological dysfunction, immunodeficiency, telangiectasia, chromosomal problems, and sensitivity to radiation, infection, and susceptibility to cancer. A 5-year-old girl with Ataxia Telangiectasia applied to our rehabilitation center due to balance and coordination problems. Step length, double step length, step width and cadence were calculated in the patient and the distance parameters and the time of the walk were examined. The balance of the patient was also evaluated using the pediatric balance scale. It can be said that balance exercises performed in patients with AT provide increases in the patient's balance, coordination and normalize the gait pattern by reducing ataxia.
Anahtar Kelimeler
Ataxia Telangiectasia Balance Walking Pediatric balance scale
Destekleyen Kurum
Yok
Proje Numarası
Yok
Kaynakça
- Akarsu ÖP, Atılgan CÜ, Güven D. 2012. Ataksi telenjiektazide konjonktival telenjiektazi: Olgu sunumu. TJO, 42(1): 75-77.
- Biton S, Barzilai A, Shiloh Y. 2008. The neurological phenotype of ataxi-atelangiectasia: solving a persistent puzzle. DNA Repair, 7: 1028-1038.
- Gatti RA. 1995. Ataxia-telengiectasia. Dermatol Clin, 13: 1-6.
- Ghiasy S, Parvaneh L, Azizi G, Sadri G, Zaki Dizaji M, Abolhassani H. 2017. The clinical significance of complete class switching defect in Ataxia telangiectasia patients. Expert Rev Clin Immunol, 13(5): 499-505.
- Hoche F, Seidel K, Theis M, Vlaho S, Schubert R, Zielen S, et al. 2012. Neurodegeneration in ataxia telangiectasia: What is new? What is evident? Neuropediatrics, 43(3): 119-129.
- Islam MI, Hoque SKA, Islam MT, Saleh ASM, Saha NCM, Rahman AKM. 2010. Ataxia telangiectasia: a case report. J Dhaka Medic College, 19: 69-71.
- Levine D, Richard J, Whittle MW. 2012. Whittle’s gait analysis. Churchill Livingstone, Edinburgh, UK, pp: 32-39.
- Meyts I, Weemaes C, Wolf-Peeters CD, Proesmans M, Renard M, Uyttebroack A, de Boeck K. 2003. Unusual and severe disease course in a child with ataxiatelangiactasia. Pediatr Allergy Immunol, 14: 330-333.
- Nissenkorn A, Levi YB, Vilozni D, Berkun Y, Efrati O, Frydman M. 2011. Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease? J Pediatr, 159: 466-471.
- Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrathMorrow SA, Crawford TO, Lederman HM. 2016. Ataxia telangiectasia: a review. Orphanet J Rare Dis, 11: 159.
- Slight SR, Rangel-Moreno J, Gopal R, Lin Y, Fallert Junecko BA, Mehra S. 2013. CXCR5+ T helper cells mediate protective immunity against tuberculosis. J Clin Invest, 123: 712-726.
- Teive HA, Moro A, Moscovich M, Arruda WO, Munhoz RP, Raskin S. 2015. Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci, 355(1-2): 3-6.
- Tekin F. 2016. Serebral palsili çocuklarda nörogelişimsel tedavi (Bobath Tedavisi) yaklaşımı’nın postüral kontrol ve denge üzerine etkisi. Yüksek Lisans Tezi. Pamukkale Üniversitesi, Denizli, Türkiye, pp: 71.
- Yaman M, Oruç S, Acar M, Demirkırkan MK. 2005. Ataksi telenjiektazi: Olgu Sunumu ve literatürün gözden geçirilmesi. Medic J Kocatepe, 6: 63-65.
- Zaki-Dizaji M, Akrami SM, Abolhassani H, Rezaei N, Aghamohammadi A. 2017. Ataxia telangiectasia syndrome: moonlighting ATM. Expert Rev Clin Immunol, 13(12): 1155-72.
- Zaki-Dizaji M, Tajdini M, Kiaee F, Shojaaldini H, Bady RS, Abolhassani H et al. 2020. Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations. Oman Med J, 35(1): 93.
Öz
Ataxia Telangiectasia is a rare autosomal recessive disease characterized by progressive neurological dysfunction, immunodeficiency, telangiectasia, chromosomal problems, and sensitivity to radiation, infection, and susceptibility to cancer. A 5-year-old girl with Ataxia Telangiectasia applied to our rehabilitation center due to balance and coordination problems. Step length, double step length, step width and cadence were calculated in the patient and the distance parameters and the time of the walk were examined. The balance of the patient was also evaluated using the pediatric balance scale. It can be said that balance exercises performed in patients with AT provide increases in the patient's balance, coordination and normalize the gait pattern by reducing ataxia.
Anahtar Kelimeler
Ataxia Telangiectasia Balance Walking Pediatric balance scale
Proje Numarası
Yok
Kaynakça
- Akarsu ÖP, Atılgan CÜ, Güven D. 2012. Ataksi telenjiektazide konjonktival telenjiektazi: Olgu sunumu. TJO, 42(1): 75-77.
- Biton S, Barzilai A, Shiloh Y. 2008. The neurological phenotype of ataxi-atelangiectasia: solving a persistent puzzle. DNA Repair, 7: 1028-1038.
- Gatti RA. 1995. Ataxia-telengiectasia. Dermatol Clin, 13: 1-6.
- Ghiasy S, Parvaneh L, Azizi G, Sadri G, Zaki Dizaji M, Abolhassani H. 2017. The clinical significance of complete class switching defect in Ataxia telangiectasia patients. Expert Rev Clin Immunol, 13(5): 499-505.
- Hoche F, Seidel K, Theis M, Vlaho S, Schubert R, Zielen S, et al. 2012. Neurodegeneration in ataxia telangiectasia: What is new? What is evident? Neuropediatrics, 43(3): 119-129.
- Islam MI, Hoque SKA, Islam MT, Saleh ASM, Saha NCM, Rahman AKM. 2010. Ataxia telangiectasia: a case report. J Dhaka Medic College, 19: 69-71.
- Levine D, Richard J, Whittle MW. 2012. Whittle’s gait analysis. Churchill Livingstone, Edinburgh, UK, pp: 32-39.
- Meyts I, Weemaes C, Wolf-Peeters CD, Proesmans M, Renard M, Uyttebroack A, de Boeck K. 2003. Unusual and severe disease course in a child with ataxiatelangiactasia. Pediatr Allergy Immunol, 14: 330-333.
- Nissenkorn A, Levi YB, Vilozni D, Berkun Y, Efrati O, Frydman M. 2011. Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease? J Pediatr, 159: 466-471.
- Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrathMorrow SA, Crawford TO, Lederman HM. 2016. Ataxia telangiectasia: a review. Orphanet J Rare Dis, 11: 159.
- Slight SR, Rangel-Moreno J, Gopal R, Lin Y, Fallert Junecko BA, Mehra S. 2013. CXCR5+ T helper cells mediate protective immunity against tuberculosis. J Clin Invest, 123: 712-726.
- Teive HA, Moro A, Moscovich M, Arruda WO, Munhoz RP, Raskin S. 2015. Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci, 355(1-2): 3-6.
- Tekin F. 2016. Serebral palsili çocuklarda nörogelişimsel tedavi (Bobath Tedavisi) yaklaşımı’nın postüral kontrol ve denge üzerine etkisi. Yüksek Lisans Tezi. Pamukkale Üniversitesi, Denizli, Türkiye, pp: 71.
- Yaman M, Oruç S, Acar M, Demirkırkan MK. 2005. Ataksi telenjiektazi: Olgu Sunumu ve literatürün gözden geçirilmesi. Medic J Kocatepe, 6: 63-65.
- Zaki-Dizaji M, Akrami SM, Abolhassani H, Rezaei N, Aghamohammadi A. 2017. Ataxia telangiectasia syndrome: moonlighting ATM. Expert Rev Clin Immunol, 13(12): 1155-72.
- Zaki-Dizaji M, Tajdini M, Kiaee F, Shojaaldini H, Bady RS, Abolhassani H et al. 2020. Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations. Oman Med J, 35(1): 93.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Proje Numarası | Yok |
| Erken Görünüm Tarihi | 19 Haziran 2023 |
| Yayımlanma Tarihi | 1 Temmuz 2023 |
| Gönderilme Tarihi | 3 Nisan 2023 |
| Kabul Tarihi | 26 Nisan 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 6 Sayı: 3 |
