Kirschner Janbernd, Lochmüller Hanns
Division of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Freiburg, Germany.
Handb Clin Neurol. 2011;101:41-6. doi: 10.1016/B978-0-08-045031-5.00003-7.
The so-called sarcoglycanopathies form a subgroup of four genetically closely related autosomal recessive limb-girdle muscular dystrophies (LGMD2C-F) caused by mutations of the α-, β-, γ-, and δ-sarcoglycan genes. All four sarcoglycans are glycosylated transmembrane proteins and form a tetrameric complex that is part of dystrophin-associated proteins. The clinical phenotype associated with sarcoglycanopathies is characterized by a slowly progressive proximal muscle weakness with onset during childhood in most cases. The disease course is often similar but more variable than X-linked Duchenne muscular dystrophy. Diagnosis is usually based on muscle biopsy findings that confirm dystrophic changes and deficiency of one or more sarcoglycan proteins. Genetic testing is used to confirm the diagnosis. A number of different animal models have been developed to study the function of sarcoglycans and to develop specific therapeutic strategies such as gene transfer, but so far none of these techniques has entered clinical practice. Therefore, treatment is symptomatic and aims at amelioration of locomotor, respiratory, and cardiac manifestations of the disease.
所谓的肌聚糖病是一组由α-、β-、γ-和δ-肌聚糖基因突变引起的、在遗传上密切相关的常染色体隐性肢带型肌营养不良症（LGMD2C-F）的亚组。所有这四种肌聚糖都是糖基化跨膜蛋白，并形成一种四聚体复合物，该复合物是抗肌萎缩蛋白相关蛋白的一部分。与肌聚糖病相关的临床表型特征为缓慢进展的近端肌无力，多数情况下在儿童期发病。疾病进程通常与X连锁杜氏肌营养不良症相似，但更具变异性。诊断通常基于肌肉活检结果，这些结果证实了营养不良性改变以及一种或多种肌聚糖蛋白的缺乏。基因检测用于确诊。已经开发了许多不同的动物模型来研究肌聚糖的功能，并制定诸如基因转移等特定治疗策略，但到目前为止，这些技术均未进入临床实践。因此，治疗是对症治疗，旨在改善疾病的运动、呼吸和心脏表现。
