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目的 总结近端脊髓性肌萎缩症 (SMA)各类型的临床与肌肉病理学特征的关系及临床意义。方法 收集 39例做过肌肉活检的各型SMA病例 ,进行临床及肌肉病理学分析。肌肉病理采用本实验室常规组织学及组织化学技术方法。结果 四型SMA有各自特点。SMA Ⅰ多于出生时发病 ,肌无力及肌萎缩以四肢近端为主 ,血清CPK正常 ,病程快 ,死亡率高 ,肌活检示大组的小萎缩肌纤维 ,常累及整个肌束。SMA Ⅱ发病慢 ,下肢肌无力重于上肢 ,肌萎缩不明显 ,血清CPK偶有升高 ,预后相对好 ,肌活检示少见大组萎缩肌纤维 ,同型肌群化突出。SMA Ⅲ起病隐袭 ,近端肌无力及肌萎缩呈进行性发展 ,血清CPK升高 ,需与进行性肌营养不良鉴别。肌活检变化多样 ,以同型肌群化为主要特征。SMA Ⅳ于 40岁左右发病 ,起病与进展均较隐袭 ,肌活检示神经源性损害 ,同型肌群化为主。结论 结合临床表现做肌肉活检可为确定诊断提供可靠的证据 ,在鉴别诊断中有重要价值 ,并可为基因诊断研究提供确诊病例。
Objective To summarize the relationship between clinical and muscle pathological features of various types of proximal spinal muscular atrophy (SMA) and its clinical significance. Methods A total of 39 SMA patients with muscle biopsies were collected for clinical and muscle pathological analysis. Muscle pathology using the conventional laboratory histochemical and histochemical techniques. Results Four types of SMA have their own characteristics. SMA Ⅰ more than at birth, muscle weakness and muscle atrophy to the proximal limbs, serum CPK normal, fast course, high mortality, muscle biopsy showed a large group of small atrophy muscle fibers, often involving the entire muscle bundle. SMA Ⅱ slow onset, lower extremity muscle weakness in upper limbs, muscle atrophy was not obvious, occasionally elevated serum CPK, the prognosis is relatively good, muscle biopsy showed rare large group of atrophy muscle fibers, prominent homogeneous muscle. SMA Ⅲ insidious onset, proximal muscular weakness and muscular atrophy were progressive development, serum CPK increased, with progressive muscular dystrophy identified. Muscle biopsy varied, with the same type of muscular as the main feature. SMA Ⅳ in the 40-year-old onset, onset and progress were more insidious, muscle biopsy showed neurogenic damage, mainly of the same type of muscle. Conclusion Combined with clinical manifestations of muscle biopsy can provide reliable evidence for the diagnosis, in the differential diagnosis of great value, and for the diagnosis of gene diagnosis provide cases.