Shuaib A, Paasuke R T, Brownell K W
Medicine (Baltimore). 1987 Sep;66(5):389-96.
Findings in 13 patients with central core disease are reported and compared with 62 patients from the literature. Patients with central core disease show wide variation in the clinical spectrum of muscle involvement. Some will have no symptoms and be completely normal on examination, many will show mild to moderate weakness, and a small number will be severely affected. Muscle atrophy is a frequent finding, but progression of muscle weakness is rare and occurs only slowly. Musculoskeletal deformities, including kyphoscoliosis, congenital hip dislocation, feet deformities, and joint contractures, are often seen but generally do not alter the natural history of the disease. Surgical treatment may be required for some of these abnormalities. No relationship appears to exist between the degree of muscle weakness and the presence or type of musculoskeletal deformities. Cardiac abnormalities have rarely been reported in association with central core disease. Mitral valve prolapse was noted in 3 of our patients and 2 others had cardiac arrhythmias. Central core disease and susceptibility to malignant hyperthermia was present in all 11 patients we studied (2 patients with central core disease did not have studies for malignant hyperthermia). These 11 patients came from 4 families. All patients with central core disease should be considered at risk for malignant hyperthermia unless in-vitro contracture tests show that the particular patient is free of the trait.
本文报告了13例中央轴空病患者的研究结果，并与文献报道的62例患者进行了比较。中央轴空病患者的肌肉受累临床表现差异很大。一些患者可能没有症状，检查时完全正常；许多患者表现为轻度至中度肌无力；少数患者会受到严重影响。肌肉萎缩很常见，但肌无力进展罕见且缓慢。常可见到肌肉骨骼畸形，包括脊柱侧凸、先天性髋关节脱位、足部畸形和关节挛缩，但一般不改变疾病的自然病程。其中一些异常情况可能需要手术治疗。肌无力程度与肌肉骨骼畸形的存在或类型之间似乎没有关联。很少有关于中央轴空病合并心脏异常的报道。我们的3例患者发现有二尖瓣脱垂，另外2例有心律失常。我们研究的11例患者（2例中央轴空病患者未进行恶性高热检测）均存在中央轴空病且对恶性高热易感。这11例患者来自4个家庭。所有中央轴空病患者均应被视为有恶性高热风险，除非体外挛缩试验表明该特定患者不具有此特征。
