Rigid spine syndrome with selective respiratory muscle weakness.
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.
Akiyama
Y
Y
First Department of Medicine, Hokkaido University School of Medicine, Sapporo, Japan.
Aimoto
Y
Y
Nishimura
M
M
Takai
S
S
Kawakami
Y
Y
D000328:Adult; D005260:Female; D006801:Humans; D009135:Muscular Diseases / Q000150:complications / Q000503:physiopathology*; D012121:Respiration, Artificial; D012131:Respiratory Insufficiency / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D012132:Respiratory Muscles / Q000503:physiopathology*; D012600:Scoliosis / Q000150:complications; D013577:Syndrome