Rigid spinal muscular dystrophy and rigid spine syndrome: Report of 7 children

Roshan Koul, Saif Al-Yarubi, Hussein Al-Kindy, Amna Al-Futaisi, Khalid Al-Thihli, Poovathoor Alexander Chacko, Dilip Sankhla

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1436-1440
Number of pages5
JournalJournal of Child Neurology
Volume29
Issue number11
DOIs
Publication statusPublished - Nov 8 2014

Fingerprint

Selenoproteins
Muscular Dystrophies
Muscular Diseases
Spine
Paraspinal Muscles
Muscles
Genetic Testing
Rigid spine syndrome

Keywords

  • congenital myopathy
  • rigid spinal muscular dystrophy
  • rigid spine

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Rigid spinal muscular dystrophy and rigid spine syndrome : Report of 7 children. / Koul, Roshan; Al-Yarubi, Saif; Al-Kindy, Hussein; Al-Futaisi, Amna; Al-Thihli, Khalid; Chacko, Poovathoor Alexander; Sankhla, Dilip.

In: Journal of Child Neurology, Vol. 29, No. 11, 08.11.2014, p. 1436-1440.

Research output: Contribution to journalArticle

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