AIM:To study the electromyogram and muscular pathological features of adult sp inal muscular atrophy(SMA4).METHODS:46 cases of SMA4 were evaluated based on cli nical,histopathology,enzyme histochemistry and ultrastruc...AIM:To study the electromyogram and muscular pathological features of adult sp inal muscular atrophy(SMA4).METHODS:46 cases of SMA4 were evaluated based on cli nical,histopathology,enzyme histochemistry and ultrastructure.RESULTS:A mean age of the patients with SMA4 was 38.7 years,clinical progressed was slowly.Clinic manifestations mainly appeared proximal muscular weakness and progressive muscul ar atrophy,and there was a relatively good prognosis.Laboratory found:one-fourt h of the disease had elevated serum creatine kinase levels.Eletromyogram reveale d neurogenic damages. The muscular pathological changes showed small groups of a trophy of denervation,ATPase reaction showed fibre-type grouping of renervation and hypertrophy in muscle fibers.CONCLUSION:Muscle biopsy was important;it coul d to help to establish to diagnose the disorder and provided available cases for gene study.展开更多
BACKGROUND： Spinal muscular atrophy （SMA） is a kind of degenerative disease of nervous system. There are 4 types in clinic, especially types Ⅰ, Ⅱ and Ⅲ are common, and the researches on those 3 types are relativ...BACKGROUND： Spinal muscular atrophy （SMA） is a kind of degenerative disease of nervous system. There are 4 types in clinic, especially types Ⅰ, Ⅱ and Ⅲ are common, and the researches on those 3 types are relative mature. Type IV is a kind of adult spinal muscular atrophy （ASMA）, which has low incidence rate and is often misdiagnosed as amyotrophic lateral sclerosis, muscular dystrophy, cervical syndrome, or others.OBJEETIVE： To observe the clinical features of 46 ASMA patients and analyze the relationship between course and activity of daily living. DESIGN ： Case analysis.SETTING： Departments of Neurology of the 81 Hospital of Chinese PLA, the Second Affiliated Hospital of Nanjing Medical College and General Hospital of Nanjing Military Area Command of Chinese PLA.PARTICIPANTS ： A total of 46 ASMA patients were selected from the Departments of Neurology of the 81 Hospital of Chinese PLA, the Second Affiliated Hospital of Nanjing Medical College and General Hospital of Nanjing Military Area Command of Chinese PLA between April 1998 and January 2002. All patients were consentient. Among 46 cases, there were 37 males and 9 females with the mean age of 42 years. The patients＇ courses in all ranged from 6 months to 23 years, concretely, courses of 37 cases were less than or equal to 5 years, and those of 9 cases were more than or equal to 6 years.METHODS： ① All the 46 ASMA patients were asked to check blood sedimentation, anti O, serum creatinine, creatine, blood creatine phosphokinase （CPK） and muscular biopsy as early as possible. ②X-ray was used to measure plain film of cervical vertebra borderline film of cranium and neck at proximal end of upper limb of 25 cases and plain film of abdominal vertebra at proximal end of lower limb of 17 cases. ③ Cerebrospinal fluid of lumbar puncture was checked on 42 cases, for routine examination, biochemical examination, and immunoglobulin examination. Electromyogram （EMG） was also examined to 42 cases. ④ Barthel index was used to evaluate activities of daily living （ADL） of patients with various courses. The index ranged from 1 to 100. The more the index of a ASMA was, the stronger his independence was. ⑤ The Barthel indexes of patients with courses ≤ 5 years and those ≥ 6 years were compared with univariate analysis of variance. MAIN OUTCOME MEASURES： ① Incidences of all patients at the first time; ② values of relative blood and blood biochemistry; ③results of muscular biopsy; ④ results of EMG and relative X-ray plain film of 42 cases; ⑤ results of cerebrospinal fluid of 42 cases; ⑥ comparisons of Barthel index of patients with various courses.RESULTS： A total of 46 ASMA patients were involved in the final analysis. ① Incidence on the first time： 25 patients had the disease at the proximal end of upper limb, 17 at the proximal end of lower limb, and 4 at the four limbs. ② Value of serum-blood CPK of one fourth patients was increased slightly （3.034-9.735 μkat/L; normal value： 0.400-3.001 μkat/L）, and other values of blood and blood biochemical indicator were normal. ③Results of muscle biopsy of all patients showed that a small group of muscular atrophy could be observed mostly, and muscle group in the same type and compensatory hypertrophy of muscle fibres were also observed with ATP enzyme staining. ④ Results of EMG of 42 cases suggested that 37 patients had mild and moderate nerve-derived injury and 3 had mild muscle-derived injury. Results of all the X-ray plain films in this study were normal. ⑤ Results of routine, biochemical and immunoglobulin examination in cerebrospinal fluid of lumbar puncture in 42 cases were all normal. ⑥The difference between Barthel indexes of patients with courses ≤ 5 years and those ≥ 6 years was not significant [（64.73±20.38） vs （68.89±21.76） points, P〉 0.05]. CONCLUSION ： ① Amyasthenia is mainly occurred at the proximal end of the four limbs of ASMA patients. A small group of muscular atrophy is its mostly pathological change, and the progression of the disease is slow. ② Most patients have mild and moderate nerve-derived injury under EMG examination.③ The duration of a patient suffered from the disease has no obvious effect on his ADL ability.展开更多
Spinal muscular atrophy （SMA） is a genetic neuromuscular disorder characterized by progressive degeneration of the anterior horn cell leading to a lower motor neuron lesion. It is characterized by degeneration of a...Spinal muscular atrophy （SMA） is a genetic neuromuscular disorder characterized by progressive degeneration of the anterior horn cell leading to a lower motor neuron lesion. It is characterized by degeneration of alpha neurons in the anterior horn cells of the spinal cord leading to progressive muscle atrophy and premature death, usually from respiratory failure.1 There are four types according to the symptoms （Table 1）.展开更多
文摘AIM:To study the electromyogram and muscular pathological features of adult sp inal muscular atrophy(SMA4).METHODS:46 cases of SMA4 were evaluated based on cli nical,histopathology,enzyme histochemistry and ultrastructure.RESULTS:A mean age of the patients with SMA4 was 38.7 years,clinical progressed was slowly.Clinic manifestations mainly appeared proximal muscular weakness and progressive muscul ar atrophy,and there was a relatively good prognosis.Laboratory found:one-fourt h of the disease had elevated serum creatine kinase levels.Eletromyogram reveale d neurogenic damages. The muscular pathological changes showed small groups of a trophy of denervation,ATPase reaction showed fibre-type grouping of renervation and hypertrophy in muscle fibers.CONCLUSION:Muscle biopsy was important;it coul d to help to establish to diagnose the disorder and provided available cases for gene study.
文摘BACKGROUND： Spinal muscular atrophy （SMA） is a kind of degenerative disease of nervous system. There are 4 types in clinic, especially types Ⅰ, Ⅱ and Ⅲ are common, and the researches on those 3 types are relative mature. Type IV is a kind of adult spinal muscular atrophy （ASMA）, which has low incidence rate and is often misdiagnosed as amyotrophic lateral sclerosis, muscular dystrophy, cervical syndrome, or others.OBJEETIVE： To observe the clinical features of 46 ASMA patients and analyze the relationship between course and activity of daily living. DESIGN ： Case analysis.SETTING： Departments of Neurology of the 81 Hospital of Chinese PLA, the Second Affiliated Hospital of Nanjing Medical College and General Hospital of Nanjing Military Area Command of Chinese PLA.PARTICIPANTS ： A total of 46 ASMA patients were selected from the Departments of Neurology of the 81 Hospital of Chinese PLA, the Second Affiliated Hospital of Nanjing Medical College and General Hospital of Nanjing Military Area Command of Chinese PLA between April 1998 and January 2002. All patients were consentient. Among 46 cases, there were 37 males and 9 females with the mean age of 42 years. The patients＇ courses in all ranged from 6 months to 23 years, concretely, courses of 37 cases were less than or equal to 5 years, and those of 9 cases were more than or equal to 6 years.METHODS： ① All the 46 ASMA patients were asked to check blood sedimentation, anti O, serum creatinine, creatine, blood creatine phosphokinase （CPK） and muscular biopsy as early as possible. ②X-ray was used to measure plain film of cervical vertebra borderline film of cranium and neck at proximal end of upper limb of 25 cases and plain film of abdominal vertebra at proximal end of lower limb of 17 cases. ③ Cerebrospinal fluid of lumbar puncture was checked on 42 cases, for routine examination, biochemical examination, and immunoglobulin examination. Electromyogram （EMG） was also examined to 42 cases. ④ Barthel index was used to evaluate activities of daily living （ADL） of patients with various courses. The index ranged from 1 to 100. The more the index of a ASMA was, the stronger his independence was. ⑤ The Barthel indexes of patients with courses ≤ 5 years and those ≥ 6 years were compared with univariate analysis of variance. MAIN OUTCOME MEASURES： ① Incidences of all patients at the first time; ② values of relative blood and blood biochemistry; ③results of muscular biopsy; ④ results of EMG and relative X-ray plain film of 42 cases; ⑤ results of cerebrospinal fluid of 42 cases; ⑥ comparisons of Barthel index of patients with various courses.RESULTS： A total of 46 ASMA patients were involved in the final analysis. ① Incidence on the first time： 25 patients had the disease at the proximal end of upper limb, 17 at the proximal end of lower limb, and 4 at the four limbs. ② Value of serum-blood CPK of one fourth patients was increased slightly （3.034-9.735 μkat/L; normal value： 0.400-3.001 μkat/L）, and other values of blood and blood biochemical indicator were normal. ③Results of muscle biopsy of all patients showed that a small group of muscular atrophy could be observed mostly, and muscle group in the same type and compensatory hypertrophy of muscle fibres were also observed with ATP enzyme staining. ④ Results of EMG of 42 cases suggested that 37 patients had mild and moderate nerve-derived injury and 3 had mild muscle-derived injury. Results of all the X-ray plain films in this study were normal. ⑤ Results of routine, biochemical and immunoglobulin examination in cerebrospinal fluid of lumbar puncture in 42 cases were all normal. ⑥The difference between Barthel indexes of patients with courses ≤ 5 years and those ≥ 6 years was not significant [（64.73±20.38） vs （68.89±21.76） points, P〉 0.05]. CONCLUSION ： ① Amyasthenia is mainly occurred at the proximal end of the four limbs of ASMA patients. A small group of muscular atrophy is its mostly pathological change, and the progression of the disease is slow. ② Most patients have mild and moderate nerve-derived injury under EMG examination.③ The duration of a patient suffered from the disease has no obvious effect on his ADL ability.
文摘目的分析脊髓性肌萎缩症(spinal muscular atrophy,SMA)患儿大腿肌肉常规MRI影像表现特点及其临床应用价值。材料与方法以2022年1月至2022年8月在华中科技大学同济医学院附属武汉儿童医院经基因确诊并进行MRI检查的37例(Ⅰ型5例,Ⅱ型21例,Ⅲ型11例)SMA患儿为研究对象,回顾性分析不同临床分型SMA患儿大腿肌肉MRI影像表现及临床资料。采用改良版Mercuri分级对右侧大腿肌肉脂肪浸润程度进行半定量评估,采用Spearman相关性分析,将脂肪浸润总分与汉默史密斯功能运动-扩展量表(Hammersmith Functional Motor Scale Expanded,HFMSE)评分、病程及存活运动神经元2(survival motor neuron 2,SMN2)基因拷贝数进行相关性分析。结果SMA患儿表现为双侧大腿肌肉形态学改变,肌肉内部和(或)周围有点状、条状和(或)片状脂肪信号影,致肌肉呈“网状”和(或)“岛屿状”;Ⅰ型SMA以肌肉萎缩为主,Ⅱ型SMA伴有肌肉肥大,Ⅲ型SMA以脂肪浸润为主;Mercuri脂肪浸润评分显示股四头肌(肌直肌、股外侧肌、股中间肌及肌内侧肌)、缝匠肌、大收肌、股薄肌受累程度较重,其中缝匠肌的Mercuri评分最高,而长收肌、股二头肌长头、半腱肌和半膜肌受累程度较轻,其中长收肌的Mercuri评分最低,并且明显低于其他肌肉;Ⅲ型SMA患儿肌肉脂肪浸润程度与HFMSE运动功能评分呈负相关(r=-0.917,P<0.001),所有SMA患儿肌肉脂肪浸润程度均与病程呈正相关(r=0.772,P<0.001)。结论SMA患儿常规MRI表现为肌肉萎缩和脂肪浸润为主,且脂肪浸润是进行性的,不同临床表型SMA患儿肌肉受累模式及严重程度不同。此外,SMA累及肌肉是有选择性的,存在相对肌肉保留模式。MRI能可视化评估SMA患儿肌肉受累情况,并与临床指标具有良好的相关性,是一个有潜力的生物标志物。
文摘Spinal muscular atrophy （SMA） is a genetic neuromuscular disorder characterized by progressive degeneration of the anterior horn cell leading to a lower motor neuron lesion. It is characterized by degeneration of alpha neurons in the anterior horn cells of the spinal cord leading to progressive muscle atrophy and premature death, usually from respiratory failure.1 There are four types according to the symptoms （Table 1）.
