TY - JOUR
T1 - Segmental spinal muscular atrophy localised to the lower limbs
T2 - First case from Oman
AU - Koul, Roshan
AU - Al-Futaisi, Amna
AU - Al-Thihli, Khalid
AU - Bruwer, Zandre
AU - Scott, Patrick
N1 - Publisher Copyright:
© 2017, Sultan Qaboos University. All rights reserved.
PY - 2017/8
Y1 - 2017/8
N2 - 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.
AB - 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.
KW - Case report
KW - Muscle weakness
KW - Oman
KW - Pes cavus
KW - Segmental
KW - Spinal muscular atrophies of childhood
KW - Spinal muscular atrophy
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U2 - 10.18295/squmj.2017.17.03.018
DO - 10.18295/squmj.2017.17.03.018
M3 - Article
C2 - 29062563
AN - SCOPUS:85031297942
SN - 2075-051X
VL - 17
SP - e355-e357
JO - Sultan Qaboos University Medical Journal
JF - Sultan Qaboos University Medical Journal
IS - 3
ER -