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.

Thoracic abnormalities and respiratory muscle function were investigated in nine patients with rigid spine syndrome. A severe restrictive chest wall defect and limited mobility of the spine associated with clinically significant respiratory muscle weakness were present in all patients. Respiratory muscle strength and endurance were less than 60% of control values. Slight to moderate scoliosis was present in five patients and absent in four. Scoliosis appeared to have only a minor additional effect on respiratory muscle function. Six patients were emaciated, and one patient was underweight, but no relationship was seen between body mass index and respiratory muscle strength. Respiratory muscle function was more impaired in patients with hypoventilation than in normocapnic patients. Respiratory muscle involvement appears to be a significant feature of rigid spine syndrome, terminating in hypercapnic ventilatory failure in some patients.