Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome: Report of 7 Children

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...

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Bibliographic Details
Published in:Journal of child neurology 2014-11, Vol.29 (11), p.1436-1440
Main Authors: Koul, Roshan, Al-Yarubi, Saif, Al-Kindy, Hussein, Al-Futaisi, Amna, Al-Thihli, Khalid, Chacko, Poovathoor Alexander, Sankhla, Dilip
Format: Article
Language:English
Subjects:
Adolescent
Child
Child, Preschool
Diagnosis, Differential
Female
Humans
Male
Mallory Bodies - genetics
Mallory Bodies - pathology
Muscular Diseases - genetics
Muscular Diseases - pathology
Muscular Diseases - physiopathology
Muscular Dystrophies - diagnosis
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
Muscular Dystrophies - physiopathology
Scoliosis - diagnosis
Scoliosis - genetics
Scoliosis - pathology
Scoliosis - physiopathology
Tomography, X-Ray Computed
Citations: Items that this one cites
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Summary: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.
ISSN:0883-0738
1708-8283
DOI:10.1177/0883073813479173