TY - JOUR
T1 - Rigid spinal muscular dystrophy and rigid spine syndrome
T2 - Report of 7 children
AU - Koul, Roshan
AU - Al-Yarubi, Saif
AU - Al-Kindy, Hussein
AU - Al-Futaisi, Amna
AU - Al-Thihli, Khalid
AU - Chacko, Poovathoor Alexander
AU - Sankhla, Dilip
N1 - Publisher Copyright:
© The Author(s) 2013.
PY - 2014/11/8
Y1 - 2014/11/8
N2 - Seven children (5 male, 2 female) were seen over the last 16 years with rigid spine syndrome. Six children had rigid spinal muscular dystrophy (selenoprotein N1-related myopathy [SEPN1RM]) and 1 had myopathy associated with rigid spine. The main presenting complaint in all was difficulty in bending the spine. The diagnosis was made on clinical features and imaging of the paraspinal muscles. Muscle histopathology revealed minimal myopathic changes to severe muscle degeneration. Genetic testing, which was only available for the last case, for selenoprotein was negative.
AB - Seven children (5 male, 2 female) were seen over the last 16 years with rigid spine syndrome. Six children had rigid spinal muscular dystrophy (selenoprotein N1-related myopathy [SEPN1RM]) and 1 had myopathy associated with rigid spine. The main presenting complaint in all was difficulty in bending the spine. The diagnosis was made on clinical features and imaging of the paraspinal muscles. Muscle histopathology revealed minimal myopathic changes to severe muscle degeneration. Genetic testing, which was only available for the last case, for selenoprotein was negative.
KW - congenital myopathy
KW - rigid spinal muscular dystrophy
KW - rigid spine
UR - http://www.scopus.com/inward/record.url?scp=84908665623&partnerID=8YFLogxK
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U2 - 10.1177/0883073813479173
DO - 10.1177/0883073813479173
M3 - Article
C2 - 23481446
AN - SCOPUS:84908665623
SN - 0883-0738
VL - 29
SP - 1436
EP - 1440
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 11
ER -