Furukawa T, Toyokura Y
J Med Genet. 1977 Dec;14(6):426-9. doi: 10.1136/jmg.14.6.426.
Four cases of congenital, hypotonic-sclerotic muscular dystrophy are presented. The patients showed clinically prominent features described by Ullrich, i.e. congenital muscle weakness, hypotonia, and hyperextensibility of distal joints, contractures of proximal joints, high-arched palate, hyperhidrosis, posterior protrusion of calcaneus, and no progression. Muscle biopsies revealed dystrophic changes. Ullrich suggested that this condition was a new entity, but the disease has received little attention. In the present cases superior intelligence and tendency to recurrent upper respiratory tract infections were stressed as characteristics of this disorder. Insufficient cellular immunity was suspected and this may contribute to the recurrent upper respiratory tract infections and pneumonia often observed. This disease is considered a distinct entity of multisystemic involvement inherited as an autosomal recessive trait.
本文报告了4例先天性低张力硬化性肌营养不良病例。患者临床上表现出Ullrich所描述的显著特征，即先天性肌无力、肌张力减退、远端关节过度伸展、近端关节挛缩、高拱腭、多汗、跟骨后凸，且病情无进展。肌肉活检显示有营养不良性改变。Ullrich认为这种情况是一种新的疾病实体，但该疾病很少受到关注。在本病例中，强调了智力超群和反复上呼吸道感染倾向是这种疾病的特征。怀疑存在细胞免疫功能不足，这可能是导致经常观察到的反复上呼吸道感染和肺炎的原因。这种疾病被认为是一种多系统受累的独特疾病实体，以常染色体隐性性状遗传。
