Objective To analyze the clinical and pathological features of limb-girdle muscular dystrophy2B(LGMD2B).Methods The clinical and pathological features of 7 patients with LGMD2B were analyzed retrospectively.Results Seven patients had a slow onset,and progressive proximal muscle weakness,muscle atrophy,progressive,and incresed serum creatine phosphokinase; muscle biopsy showed different degree of muscle fiber degeneration,necrosis; stromal and inflammatory cell infiltration in muscle fiber; monoclonal antibody immunohistoehemical staining:showed expression of Dysferlin protein was not found in muscle cell membrane,Dystrophin,Sarcoglycans protein expression was normal.Monoclonal antibody immunohistochemical staining the proteins were expressed in normal cell membrane.Conclusions LGMD2B is a slow onset,progressive proximal muscle weakness,muscle atrophy.Histochemical staining on the basis of further immunohistochemical staining,to detect the membrane protein and Dysferlin protein expression,that is a necessary means to diagnose LGMD2B and inflammatory myopathies.

Objective To investigate the pathogenesis,diagnosis,clinical and pathological features of spinal muscular atrophy in infants.Method Twenty-two patients were retrospectively studied in term of the clinical manifestations,pathological examination and laboratory data.Results The children were ill in 8 months old,with the symptom that four limbs present symmetry and slow paralysing,and low limbs being more serious than upper limbs,the proximate being more serious than the distant of the four limbs.The level of creatine kinase(CK)and lactate dehydrogenase(LDH)in serum were normal or elevated than normal level.Electromyography demonstrated motoneuron degeneration.Muscle biopsy showed muscle fibers atrophy,degeneration and necrosis,consistent with the changes of spinal muscular atrophy.Conclusion There are unique clinical and electrophysiology features for infantile spinal muscular atrophy,and electromyography may play an important role in the diagnosis.Muscle biopsy can provide objective diagnostic evidence for spinal muscular atrophy.Recently the genetic study is developing rapidly.Symptomatic treatment is the main treatment.

Objective:To investigate the clinical features of mitochondrial encephalomyopathy.Methods:The clinical data of mitochondrial encephalomyopathy were retrospectively studied in 4 patients.Results:Microsomia,intelligence and vision/hearing disorders can be seen in the 4 patinets.Characteristic change of the muscle biopsy,elevated blood lactate level and abnormal changes of the head imaging were found in all the 4 cases.All the 4 patients have been misdiagnosed as viral encephalitis in past.Conclusion:Mitochondrial encephalomyopathy can looking like viral encephalitis.The diagnosis of mitochondrial encephalomyopathy mainly depends on clinical performance and muscle morphology.

线粒体脑肌病伴高乳酸血症和卒中样发作(mitochondrial enceph-alomyopathy with lactic acidosis and stroke-like episodes, MELAS)是线粒体脑肌病的一种临床类型,临床比较少见,症状复杂多样,极易误诊为其他神经系统疾病.本研究收治了1例被反复误诊为"病毒性脑炎"的MELAS综合征患者,现报告如下.

Duchenne型肌营养不良(DMD)是一种X-连锁隐性遗传的肌肉变性病.新生男婴DMD发生率大约是1/3500,患者肌无力发展迅速,11～13岁后完全不能行走,大部分在20岁左右死于周围性呼吸循环衰竭[1].是造成男性儿童残废和死亡的原因之一,故历来受到神经病学界的重视.本文就其发病机制研究进展综述如下.

【Objective】To study the clinical and pathological features of amyotrophic lateral sclerosis (ALS).【Methods】The general clinical data ,the changes of electromyogram and the pathological features of 62 ALS patients were retrospectively analyzed.【Results】Abnormal waves were found in muscles of limbs of all 62 ALS patients and in thoracic paraspinal muscles of 54 patients.Abnormal waves were found in sternocleidomastoid muscle from 52 of 62 ALS patients.Muscular biopsy showed obvious pathological changes.All 62 cases were characterized by small grouping atroghy and large grouping atroghy appeared in 3 cases.48 cases were associated with type grouping and 13 cases were associated with target fibers.【Conclusions】Electromyogram and neural and muscular biopsy are both important for the diagnosis of ALS.

We aimed to evaluate the clinical characteristics of patients with postoperative myasthenia gravis (MG). We retrospectively studied the data of 174 thymoma patients treated between 1990 and 2008 in Xiangya Hospital. Six of 125 patients without preoperative MG (4.8%) developed postoperative MG. The anti-acetylcholine-receptor binding antibody (ARAb) titers were elevated preoperatively in 22 of the 125 patients (17.6%) who did not have preoperative MG (range, 0.5–67.6nmol/L). Four of six patients with postoperative MG had positive ARAb levels preoperatively. Serum titers were exacerbated in all six patients at the onset of postoperative MG. Postoperative MG was responsive to anti-cholinesterase compounds and/or steroids. We concluded that a thymectomy did not prevent postoperative MG. Exacerbated ARAb levels after thymectomy suggested an extrathymic production of ARAb. We suggest that a rise in the ARAb titer might be a risk indictor for post-thymectomy MG.