Golla Sailaja, Agadi Satish, Burns Dennis K, Marks Warren, Dev Batish Sat, del Gaudio Daniela, Iannaccone Susan T
Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390, USA.
J Clin Neuromuscul Dis. 2010 Jun;11(4):203-8. doi: 10.1097/CND.0b013e3181c7f18f.
Limb girdle muscular dystrophy (LGMD) is a diverse group of myopathic disorders characterized by proximal muscle weakness and hyperCKemia. Mutations encoding sarcoglycans and numerous other proteins have been shown to be responsible for most cases. We report a series of girls with a negative family history for boys with Duchenne muscular dystrophy, demonstrating an LGMD phenotype associated with dystrophinopathy.
A retrospective chart review of all girls presenting with the LGMD phenotype to our clinic between January 2001 and September 2007 was conducted. Patients 18 years old or younger with dystrophinopathy proven by muscle biopsy and/or gene mutations and a negative family history for affected boys were included in the review.
Five patients, 4 to 10 years of age at presentation, were included in the series. Four had an LGMD phenotype at presentation. All five patients had hyperCKemia, all five patients had gene mutations, and four patients had muscle biopsy consistent with dystrophinopathy.
Dystrophinopathy is an important cause of LGMD phenotype in girls and should be considered in the differential diagnosis.
肢带型肌营养不良（LGMD）是一组多样的肌病性疾病，其特征为近端肌无力和高肌酸激酶血症。已证明编码肌聚糖和许多其他蛋白质的突变是大多数病例的病因。我们报告了一系列杜氏肌营养不良男孩家族史阴性的女孩，她们表现出与肌营养不良蛋白病相关的LGMD表型。
对2001年1月至2007年9月期间到我们诊所就诊的所有表现出LGMD表型的女孩进行回顾性病历审查。纳入年龄在18岁及以下、经肌肉活检和/或基因突变证实患有肌营养不良蛋白病且受影响男孩家族史阴性的患者。
该系列纳入了5例患者，就诊时年龄为4至10岁。4例就诊时具有LGMD表型。所有5例患者均有高肌酸激酶血症，所有5例患者均有基因突变，4例患者的肌肉活检结果与肌营养不良蛋白病一致。
肌营养不良蛋白病是女孩LGMD表型的重要病因，在鉴别诊断中应予以考虑。
