Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman
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 Sul...
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Sultan Qaboos University
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doaj-55d726d1f9ca45849e599eb96bbc87db2020-11-25T03:05:55ZengSultan Qaboos UniversitySultan Qaboos University Medical Journal 2075-051X2075-05282017-08-0117335535710.18295/squmj.2017.17.03.0182158Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from OmanRoshan Koul0Amna Al-Futaisi1Khalid Al-Thihli2Zandre Bruwer3Patrick Scott4Departments of Child Health, Sultan Qaboos University Hospital, Muscat, OmanDepartments of Child Health, Sultan Qaboos University Hospital, Muscat, OmanDepartments of Genetics, Sultan Qaboos University Hospital, Muscat, OmanDepartments of Genetics, Sultan Qaboos University Hospital, Muscat, OmanDepartments of Genetics, Sultan Qaboos University Hospital, Muscat, OmanSpinal 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.https://journals.squ.edu.om/index.php/squmj/article/view/2238spinal muscular atrophies of childhoodspinal muscular atrophy, segmentalmuscle weaknesspes cavuscase reportoman. |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Roshan Koul Amna Al-Futaisi Khalid Al-Thihli Zandre Bruwer Patrick Scott |
spellingShingle |
Roshan Koul Amna Al-Futaisi Khalid Al-Thihli Zandre Bruwer Patrick Scott Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman Sultan Qaboos University Medical Journal spinal muscular atrophies of childhood spinal muscular atrophy, segmental muscle weakness pes cavus case report oman. |
author_facet |
Roshan Koul Amna Al-Futaisi Khalid Al-Thihli Zandre Bruwer Patrick Scott |
author_sort |
Roshan Koul |
title |
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman |
title_short |
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman |
title_full |
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman |
title_fullStr |
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman |
title_full_unstemmed |
Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman |
title_sort |
segmental spinal muscular atrophy localised to the lower limbs : first case from oman |
publisher |
Sultan Qaboos University |
series |
Sultan Qaboos University Medical Journal |
issn |
2075-051X 2075-0528 |
publishDate |
2017-08-01 |
description |
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. |
topic |
spinal muscular atrophies of childhood spinal muscular atrophy, segmental muscle weakness pes cavus case report oman. |
url |
https://journals.squ.edu.om/index.php/squmj/article/view/2238 |
work_keys_str_mv |
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1724676530536185856 |