Segmental Spinal Muscular Atrophy Localised to the Lower Limbs First case from Oman
Journal Title: Sultan Qaboos University Medical Journal - Year 2017, Vol 17, Issue 3
Abstract
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. Te presence of a homozygous deletion within the survival of motor neuron 1 gene confrmed the diagnosis of SMA. To the best of the authors’ knowledge, this is the frst 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.
Authors and Affiliations
Roshan Koul| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Amna Al-Futaisi| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Khalid Al-Tihli| Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman, Zandre Bruwer| Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman, Patrick Scott| Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman
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- EP ID EP14804
- DOI 10.18295/squmj.2017.17.03.018
- Views 361
- Downloads 22
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