Rigid Spine Syndrome with Selective Respiratory Muscle Weakness

Abstract

Rigid spine syndrome is a rare myopathy characterized by mild axial and proximal muscle weakness, limitation of neck and trunk flexion, scoliosis and mild joint contractures. We describe a 20-year-old woman with this syndrome who developed severe respiratory muscle failure disproportionate to the well-preserved extremity muscles. Nocturnal home care ventilation has completely restored her arterial oxygen desaturation during a 5-year follow-up.

Rigid Spine Syndrome and Nocturnal Alveolar Hypoventilation.

“…However, this is not the case with regard to this patient because the number of rimmedvacuoles was too small to be regarded as a pathognomonic finding to explain overall were chiefly caused by the Cheyne-Stokes respiration characterized by a repeating pattern of increasing and decreasing tidal volume. Similar respiratory pattern has been noted in a RSS patient, but there was no REMsleep during the study night (6). The Cheyne-Stokes respiration or periodic breathing per se is not uncommonin normal older men, and SaO2 is knownto fall to an average of 95.8% (1 1).…”

“…However, recent reports have pointed out patients with severe respiratory failure followed by right cardiac failure and death (3)(4)(5)(6)(7)(8). In such patients , the respiratory failure resulted mainly from restrictive ventilatory dysfunction caused by respiratory muscle weakness , spine deformity, and diaphragm paralysis.…”

“…In such patients , the respiratory failure resulted mainly from restrictive ventilatory dysfunction caused by respiratory muscle weakness , spine deformity, and diaphragm paralysis. Although sleepassociated hypoventilation was also noted in some patients (4)(5)(6), detailed descriptions of nocturnal respiratory status have been sparse to date. Here we report a patient with RSSwho showed severe respiratory failure, with special reference to the nocturnal alveolar hypoventilation revealed by polygraphic sleep studies.…”

The rigid spine syndrome due to acid maltase deficiency

“…4,9,10,17,21,27,35 The RSS was thought to be a benign condition but it is now clear that progressive respiratory failure is a common finding. 1,5,6,11,20,26,31 Phenotypically Emery Dreifuss muscular dystrophy (EDMD) has many clinical features in common with RSS. 12,32 It is considered a different entity, as cardiac conduction defects are commonly seen in EDMD and it is X-linked recessive in inheritance, mapping to the long arm of the X chromosome (band Xg28).…”

Anaesthetic implications of rigid spine syndrome

“…Furthermore, moderately elevated creatine‐phosphokinase in plasma, a myopathic EMG pattern in the skeletal muscles, and histological features of nonspecific myopathy are found ( 3). A restrictive chest wall defect and a clinically significant respiratory weakness are not unusual ( 4). The symptoms are nonprogressive or slowly progressive, but cases of death caused by severe respiratory insufficiency and heart failure have been reported ( 5–11).…”