Nonaka I, Une Y, Ishihara T, Miyoshino S, Nakashima T, Sugita H
Neuropediatrics. 1981 Aug;12(3):197-208. doi: 10.1055/s-2008-1059651.
Clinical characteristics recognized in five cases with Ullrich's disease included muscle weakness and wasting, striking contracture of proximal (sclerotic) joints and hyperflexibility of distal (atonic) joints since an early infantile stage, and slowly progressive course. The biopsied muscles demonstrated myopathic changes including a remarkable variation in fiber size, notably proliferated endomysial connective tissue, increased myofibers with centralized nuclei and a few necrotic fibers with active phagocytosis. On histochemical examination, no specific intracytoplasmic structural abnormalities such as nemaline bodies, cores and myotubes were recognized. Although both type 1 and 2 fibers were distributed in checkerboard pattern in most muscle fascicles, type 1 fiber predominance or type 2 fiber deficiency was common in severely damaged muscles, suggesting the presence of some kind of neural influence exerting on the myopathic process as the disease progressed. Since it still remains uncertain whether this disorder belongs to the muscular dystrophies, or to other neuromuscular or mesodermal diseases, we would rather label it Ullrich's disease then Ullrich's muscular "dystrophy" until its pathogenesis becomes clear.
5例乌尔里希病患者的临床特征包括：自婴儿早期起即出现肌无力和肌肉萎缩、近端（硬化性）关节显著挛缩以及远端（张力缺乏性）关节过度灵活，且病程呈缓慢进展。活检肌肉显示出肌病性改变，包括肌纤维大小显著不一、肌内膜结缔组织明显增生、含中央核的肌纤维增多以及少数有活跃吞噬现象的坏死纤维。组织化学检查未发现如杆状体、核心和肌管等特异性胞浆内结构异常。尽管在大多数肌束中1型和2型纤维呈棋盘状分布，但在严重受损的肌肉中，1型纤维占优势或2型纤维缺乏较为常见，这表明随着疾病进展，某种神经影响作用于肌病过程。由于该疾病究竟属于肌营养不良症，还是其他神经肌肉或中胚层疾病仍不确定，在其发病机制明确之前，我们宁可将其称为乌尔里希病，而非乌尔里希肌“营养不良症”。
