الملخص
Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord. We report a 10-year-old boy who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with muscle weakness restricted to the lower limbs. The presence of a homozygous deletion within the survival of motor neuron 1 gene confirmed the diagnosis of SMA. To the best of the authors’ knowledge, this is the first report of an Omani patient with segmental SMA involving only the lower limbs. Treatment for this rare and relatively benign form of SMA is symptomatic and includes physiotherapy.
بيانات النشر
- المعرّف الرقمي
- 10.18295/squmj.2017.17.03.018
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 17(3), 355-357
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Koul, R., Al-Futaisi, A., Bruwer, K., Zandre, & Scott, P. (2025). Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman. Sultan Qaboos University Medical Journal, 17(3), 355-357. https://doi.org/10.18295/squmj.2017.17.03.018
MLA 9
Koul, Roshan, et al. "Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman." Sultan Qaboos University Medical Journal, vol. 17, no. 3, 2025, pp. 355-357. https://doi.org/10.18295/squmj.2017.17.03.018.
شيكاغو (المؤلف–التاريخ)
Koul, Roshan, Amna Al-Futaisi, Khalid Bruwer, Zandre, and Patrick Scott. 2025. "Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman." Sultan Qaboos University Medical Journal 17 (3): 355-357. https://doi.org/10.18295/squmj.2017.17.03.018.
هارفارد
Koul, R., Al-Futaisi, A., Bruwer, K., Zandre and Scott, P. (2025) 'Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman', Sultan Qaboos University Medical Journal, 17(3), pp. 355-357. doi:10.18295/squmj.2017.17.03.018.
فانكوفر
Koul R, Al-Futaisi A, Bruwer K, Zandre, Scott P. Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman. Sultan Qaboos University Medical Journal. 2025;17(3):355-357. doi:10.18295/squmj.2017.17.03.018
IEEE
R. Koul, A. Al-Futaisi, K. Bruwer, Zandre, and P. Scott, "Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman," Sultan Qaboos University Medical Journal, vol. 17, no. 3, pp. 355-357, 2025, doi: 10.18295/squmj.2017.17.03.018.