Segmental spinal muscular atrophy localised to the lower limbs : first case from Oman
Other Title(s)
ضمور عضلي شوكي قطعي متموضع في الأطراف السفلى : أول حالة تسجل في عمان
Joint Authors
Scott, Patrick
Bruwer, Zandre
al-Fatisiyah, Aminah
Dhihli, Khalid
Koul, Roshan
Source
Sultan Qaboos University Medical Journal
Issue
Vol. 17, Issue 3 (31 Aug. 2017), pp.355-357, 3 p.
Publisher
Sultan Qaboos University College of Medicine and Health Sciences
Publication Date
2017-08-31
Country of Publication
Oman
No. of Pages
3
Main Subjects
Abstract EN
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 localized 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.
American Psychological Association (APA)
Koul, Roshan& al-Fatisiyah, Aminah& Dhihli, Khalid& Bruwer, Zandre& Scott, Patrick. 2017. 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.
https://search.emarefa.net/detail/BIM-844738
Modern Language Association (MLA)
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 (Aug. 2017), pp.355-357.
https://search.emarefa.net/detail/BIM-844738
American Medical Association (AMA)
Koul, Roshan& al-Fatisiyah, Aminah& Dhihli, Khalid& Bruwer, Zandre& Scott, Patrick. Segmental spinal muscular atrophy localised to the lower limbs : first case from Oman. Sultan Qaboos University Medical Journal. 2017. Vol. 17, no. 3, pp.355-357.
https://search.emarefa.net/detail/BIM-844738
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 357
Record ID
BIM-844738