title: Rigid spinal muscular dystrophy and rigid spine syndrome: report of 7 children.
abstract: 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.
authors.affiliation: Department of Child Health (Neurology), Sultan Qaboos University Hospital, Muscat, Oman koulroshan@gmail.com.
authors.forename: Roshan
authors.initials: R
authors.lastname: Koul
authors.affiliation: Department of Endocrinology, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Saif
authors.initials: S
authors.lastname: Al-Yarubi
authors.affiliation: Department of Pulmonology, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Hussein
authors.initials: H
authors.lastname: Al-Kindy
authors.affiliation: Department of Child Health (Neurology), Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Amna
authors.initials: A
authors.lastname: Al-Futaisi
authors.affiliation: Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Khalid
authors.initials: K
authors.lastname: Al-Thihli
authors.affiliation: Department of Child Health (Neurology), Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Poovathoor Alexander
authors.initials: PA
authors.lastname: Chacko
authors.affiliation: Department of Radiology, College of Medicine and Health sciences, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Dilip
authors.initials: D
authors.lastname: Sankhla
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D059609:Mallory Bodies / Q000235:genetics / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D012600:Scoliosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D014057:Tomography, X-Ray Computed
keywords: congenital myopathy; rigid spinal muscular dystrophy; rigid spine