The rigid spine syndrome: A vacuolar variant Academic Article uri icon


MeSH Major

  • Mitral Valve Insufficiency
  • Muscles
  • Neural Conduction
  • Spinal Diseases
  • Vacuoles


  • The rigid spine syndrome encompasses a number of disorders. We report 7 males and 2 females with this phenotype and a single, not previously reported, nosology. The salient muscle histological features were autophagic vacuoles, vacuoles containing capillaries, muscle spindle swelling, and type I fiber predominance. Disease onset was before age 6 years in all patients. Inheritance was probably autosomal recessive as siblings were affected in two families. Pulmonary function tests showed severely restricted ventilation, 3 patients required nocturnal ventilatory assistance, 2 patients had cor pulmonale, and mitral valve abnormalities were common. Serum CK levels were moderately elevated. EMG studies showed evidence of an active, chronic myopathy. The mean motor unit potential duration was statistically significantly shorter compared to controls in the triceps and anterior tibial muscles. Single fiber EMG "jitter" and evoked potential studies were normal.

publication date

  • January 1993



  • Academic Article



  • eng

PubMed ID

  • 8515761

Additional Document Info

start page

  • 530

end page

  • 6


  • 16


  • 5