Cotta Ana, Carvalho Elmano, da-Cunha-Júnior Antonio Lopes, Paim Júlia Filardi, Navarro Monica M, Valicek Jaquelin, Menezes Miriam Melo, Nunes Simone Vilela, Xavier Neto Rafael, Takata Reinaldo Issao, Vargas Antonio Pedro
Departamento de Patologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
Departamento de Neurofisiologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
Arq Neuropsiquiatr. 2014 Sep;72(9):721-34. doi: 10.1590/0004-282x20140110.
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.
肢带型肌营养不良症是一组异质性常染色体遗传性神经肌肉疾病。它们在肌肉活检时会产生营养不良性改变，并且与参与肌肉结构和功能的多个基因突变有关。本文展示了详细的临床、实验室、影像学、诊断流程图、照片、表格及图示，用于在巴西的一个参考中心对目前诊断出的常见常染色体隐性肢带型肌营养不良症亚型进行鉴别诊断。术前影像研究可指导肌肉活检部位的选择。肌肉受累的影像模式因肢带型肌营养不良症亚型而异。在钙蛋白酶病和福金相关蛋白病中，大腿后部肌肉受累明显；在肌聚糖病中，大腿前部肌肉受累；在dysferlinopathy和telethoninopathy中，整个大腿肌肉受累。肢带型肌营养不良症的精确鉴别诊断对于遗传咨询、预后指导、心脏和呼吸管理很重要。除此之外，未来它可能会为每种亚型提供特定的基因治疗方法。
