Gamble J G, Rinsky L A, Lee J H
Children's Hospital at Stanford, Palo Alto, California 94304.
J Bone Joint Surg Am. 1988 Aug;70(7):1061-6.
We studied the cases of fifteen patients who had central core disease, a non-progressive congenital myopathy that is usually inherited as an autosomal dominant trait. As infants, the patients had poor muscle tone and developmental delay, and as adolescents and adults, they had varying degrees of proximal muscle weakness and tended to use the Gower maneuver. The most common musculoskeletal problems were dislocation or subluxation of the hip, pes planus, and hypermobility of the joints. The most serious orthopaedic problems were in the hips: ten patients had a total of nine dislocations and six subluxations, nine being present at birth and six developing later. Only nine hips were stable after the initial treatment, and there was a propensity for hip-joint contractures. Scoliosis and patellar instability were also seen. Although patients who have central core disease have been reported to be at increased risk for malignant hyperthermia, this did not occur in our patients.
我们研究了15例患有中央核病的患者，这是一种非进行性先天性肌病，通常作为常染色体显性性状遗传。这些患者在婴儿期肌张力低下且发育迟缓，在青少年期和成年期则有不同程度的近端肌无力，并且倾向于采用Gower征动作。最常见的肌肉骨骼问题是髋关节脱位或半脱位、扁平足和关节活动过度。最严重的骨科问题发生在髋关节：10例患者共有9次脱位和6次半脱位，其中9次在出生时就存在，6次在后来出现。初始治疗后仅有9个髋关节稳定，并且有髋关节挛缩的倾向。还观察到脊柱侧弯和髌骨不稳定。尽管据报道患有中央核病的患者发生恶性高热的风险增加，但我们的患者并未出现这种情况。
