Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome

Author:

Koul Roshan1,Al-Yarubi Saif2,Al-Kindy Hussein3,Al-Futaisi Amna1,Al-Thihli Khalid4,Chacko Poovathoor Alexander1,Sankhla Dilip5

Affiliation:

1. Department of Child Health (Neurology), Sultan Qaboos University Hospital, Muscat, Oman

2. Department of Endocrinology, Sultan Qaboos University Hospital, Muscat, Oman

3. Department of Pulmonology, Sultan Qaboos University Hospital, Muscat, Oman

4. Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman

5. Department of Radiology, College of Medicine and Health sciences, Sultan Qaboos University Hospital, Muscat, Oman

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.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

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