Objective To investigate the clinical and pathological features of Miyoshi myopathy(MM) with dysferlin protein deficient. Methods The clinical and pathological data of the 3 patients with MM were analysed. Results 3 patients were onset at youngster.The clinical manifestation were myastheria and myoatrophy in distal of lower limbs.1 case combined myalgia and tumefaction in lower limbs at early stage of onset;1 case showed myathenia in proximal of lower limbs.The level of serum creatine phosphokinase (CK) was significantly ligher in the 3 cases (7543 IU/L, 5657 IU/L, 8721 IU/L respectively). The level of serum lactic dehydrogenase (LDH) was significantly higher in the 2 cases (456 IU/L ,636 IU/L respectively).The result of muscle pathology was showed myogenic damage in all the cases. The expression of dysferlin protain in membrane of muscle cells was completely deficient, although the expression of dystrophin was normal. Inflammatory cells infiltration was found in 1 case's muscle tissue. Conclusions The clinical characters of MM patient are onset at youngster,myasthenia and myoatrophy in lower limbs.The deficit of dysferlin protain can be found by pathology.

Objective To analyze the clinical and pathological features of lipid storage myopathy (LSM) caused by primary carnitine deficiency (CD).Methods The clinical data of 4 cases of possible LSM caused by primary CD were analyzed retorspectively.Results The clinical features of the 4 patients were subacute or chronic onset, proximal muscle weakness and exercise intolerance. Elevated levels of creatases were measured in serum and myogenic damage was found by EMG examination. Frozen sections of muscle biopsy samples showed many fibers contained numerous vacuoles which was stained by oil red O. No ragged red fiber (RRF) was seen in MGT stain. Type I fibers were more severely affected. In electron microscopy, the prominent abnormality was the presence of excessive amounts of fatty droplets in muscle fibers and subsarcolemmal regions with mild increased mitochondria.Treatment with glucocorticoid and energy supplement had been clinically beneficial. Conclusions Fatigue and muscle weakness are prominent manifestations in LSM caused by primary CD. The main changes are accumulation of lipid droplets in muscle specimen without prominent abnormality in structure in mitochondria. Good clinic effect may be caused by therapy with glucocorticoid.

Objective To study the expression of intercellular adhesion molecule-1 (ICAM-1), interleukin-1? (IL-1?) and ultrastructure changes in capillaries and to explore whether capillaries may play a role in the pathogenesis of polymyositis (PM). Methods Ten cases of patients with PM were collected. Control group 1 consists of 6 patients with other myopathies,Control group 2 consists of 2 muscle specimens without clinical and histological evidence of a neuromuscular disorder. An immunohistochemical technique was applied to indentify the expression of ICAM-1 and IL-1? in capillaries in the PM group, Control group 1 and Control group 2. The first analysis was a qualitative assessment. For the second analysis, the number of positive mononuclear cells and capillaries of the whole tissue section from each patient and control was estimated for all the immunologic markers investigated. 10 PM patients were also examined by electron microscopy in order to observe capillary changes in muscles. Results We found that the capillaries in tissues from PM (median (64?20)/mm~2 of tissue, ranging 44—106/mm~2) were significantly less than those from controls (median (157?46)/mm~2 of tissue, ranging 93—213/mm~2) (t=-4.523, P=0.003). A significantly higher number of capillaries expressed IL-1? in the PM group than in the Control group 1(median 15/mm~2 of tissue (ranging 6—46/mm~2) vs 3/mm~2 of tissue (ranging 0—16/mm~2)) (t=3.721, P=0.003). There was no significant difference between PM group and Control group 1 in the number of capillaries expressing ICAM-1 (t=0.529,P=0.617). However, ICAM-1 expressions in endothelial cells of capillaries were stronger in PM patients as IL-1?. Electronic microscopy found capillary changes in 6 PM patients, showing as thickening and duplication of basement membrane, swelling of endothelial cells, stenosis or occlusion of vessels.Conclusion Our findings indicate that capillary changes might take a role in the pathogenesis of PM.

ObjectiveTo explore the clinical features and diagnosis of one Kennedy's disease.MethodsOne patient was clinically diagnosed as Kennedy's disease on the basis of the clinical features including slowing progression of disease, symptoms, nervous system signs, electromyography and nerve conduction velocity results and family history. His CAG number from the repetitive CAG sequence in the first exon of androgen receptor gene was determined using PCR.ResultsThe progression of Kennedy's disease is usually much slower. The CPK and testosterone levels increased in patient. EMG revealed neurogenic injury. The numbers of CAG region of the first exon of androgen receptor gene were 51 in the patient.ConclusionDespite its relatively typical manifestations, the definite diagnosis of Kennedy's disease should be made by detecting the number of CAG from the repetitive CAG region in the first exon of androgen receptor gene.

Objective 　To study the clinical and electrophysiological features in Charcot-Marie-Tooth disease type 1A with gene duplication.Methods　Clinical symptoms and signs were summarized in 22 patients from 21 unrelated families. Electromyography (EMG) as well as motor conduction velocities (MCV) and sensory conduction velocities (SCV) examinations were performed in all patients. Results　Evidence of CMT was initially detected within the second decade in 18 patients. Nearly half of patients were sporadic cases. The typical clinical manifestations of CMT1A were weakness and atrophy in the distal limbs, weakness or absence of the tendon reflexes, talipes equinovarus and postural tremor the upper limb. Additionally, some special symptoms and signs were also observed occasionally, including brisk tendon reflexes, extensor plantar responses, scoliosis, foot ulcers and nystagmus. EMG revealed that 77.3% of the patients had fibrillation and positive sharp potentials. 81.8% of them had prolonged motor unit potential limit. Median MCV showed there was no significant difference between CMT1A patients and CMT1 patients without duplication (t=1.63, P＞0.05). Values of SCV and MCV for the lower limbs were not obtained in 20 patients and more than 2/3 of the patients respectively. Conclusions　The clinical features of CMT1A included high frequent of sporadic cases, early onset in the second decade and various manifestations. The electrophysiological features were that the damages of nerves for the lower limbs were more severer than those in the upper limbs and the damages of the sensory nerves were more severer than those of the motor nerves. The phenotype was variable although the genotype was the same in CMT1A patients with PMP22 duplication.

Objective To investigate the clinical characteristics of methylmalonic academia in adolescence cases. Methods 4 cases were diagnosed methylmalonic academia by gas chromatography- masss pectrogram whose clinical, manifestations and treatment process were analyzed. Results The main clinical manifestations in 4 cases with methylmalonic academia were intellect impairment,epilepsy, pyramid signs; 2 of them suffered with hypopsia and optic atrophy, one of them suffered with papilledema. Symptoms were improved after treated with cobamamide and L-carnitine in all the 4 cases 1 months later. Conclusions The main clinical characteristics of methylmalonic academia in adolescence were intellect impairment, epilepsy and pyramid signs. The symptoms could be improved after treatment.

Objective To investigate the clinical manifestions, pathological features and diagnosing methods of Lafora disease. Methods The chnical and pathological features of 5 patients with Lafora disease who were diagnosed by axillary biopsies were systemically studied. The specimen were stained by HE, PAS and AB-PAS methods. Results Four of 5 cases had an onset during adolescence and 1 during adulthood. All cases presented with progressive generalized tonic-clonic seizure, myoclonus and dementia. Emotional disturbance, dysarthria and ataxia appeared in the early course of the disease. Lafora bodys were identified in myoepithelial cells and duct cells of both eccrine sweat glands and apecrine sweat glands in the biopsies of axillary skin. Conclusions Lafora disease could be confirmed by round and oval periodic acid-Schiff- positive inclusions in skin biopsy specimen combined with the proper clinical settings. Both axillary and other skins can be chosen as the sites of biopsy.

Myasthenia gravis is an autoimmune disease involving the acquired neuromuscular junction.Vast majority of patients with myasthenia gravis after conventional treatment (acetylcholinesterase inhibitors,plasmapheresis,gammaglobulin,and immunosuppressants) has significantly improved prognosis;but,there is still a small portion of patients had refractory myasthenia gravis,they did not have effective treatment,and their prognosis is poor.Some recent studies suggest that novel immunomodulatory agents,secondary thymus expand dissection,hematopoietic stem cell transplantation may be in force.

The 28th International Conference on Amyotrophic Lateral Sclerosis (ALS)-Motor Neuron Disease was held in Boston from December 8 to 10, 2017. The conference covered 23 topics, 102 special topics and 446 papers. This article briefly introduces some topics of the conference, involving basic research, clinical research and clinical trials. Among these, basic studies include genetics, cell biology and pathology, and superoxide dismutase1 gene ALS related pathology; clinical studies include the progression of ALS disease, cognitive behavioral disorders, and biological markers.

Objective:To describe clinical characteristics, genetic mutation and therapeutic response of a family diagnosed as slow-channel congenital myasthenia syndrome (SCCMS) and analyze the factors of the efficacy of channel blockers therapy.Methods:Clinical data and therapeutic response in three patients from a family of SCCMS from Department of Neurology, Xuanwu Hospital, Capital Medical University in May 2017 were collected. The clinical data, mutations and response to therapy of all literature SCCMS cases in the English database of Pubmed and Chinese database of Wanfang until December 31, 2018 were analyzed statistically.Results:The proband was a 48-year-old female who referred to Xuanwu Hospital for limb weakness for 40 years. The proband′s elder daughter presented with onset of the birth and delayed motor milestones, scoliosis and difficulty in walking. The younger daughter was born healthy with normal motor milestones, while fatigue and weakness gradually appeared. The antibodies of myasthenia gravis were negative. No repetitive compound muscle action potentials (CMAP) were detected in three patients. Repetitive nerve stimulation showed decrements. Gene test revealed heterozygous mutation of CHRNE p.εV279F, a known pathogenic mutation of SCCMS. Seventeen SCCMS cases were reported in literature. A total of 20 patients with SCCMS were described in terms of clinical manifestation, mutation, drug therapy and efficacy in detail. According to the literature description, they were divided into significant benefit group and mild to modest benefit group to channel blocker therapy. The age of onset in 10 patients with significant benefit was 1.50 (0.75, 28.25) years from birth to 43 years, and that in 10 patients with mild to modest benefit was 2.50 (0, 6.25) years from birth to 11 years. There was no significant difference between the two groups. The age at the initial channel blocker therapy in the group with significant benefit was (23.40±13.29) years from 12 to 43 years, whereas that in the group with mild to modest benefit was (34.10±13.43) years from 20 to 62 years, and there was no significant difference between the two groups. The delay time of treatment (age at the beginning of treatment with channel blockers-age of onset) in patients with significant benefit was 13.0 (10.25, 15.00) years, which was 32.50 (19.25, 38.00) years in patients with mild to modest benefit ( Z=-3.374, P=0.000). According to the response of cholinesterase inhibitor, eight patients were in the effective group, 10 patients were in the ineffective group and two patients were without cholinesterase inhibitor. The age of onset in the effective group was 0 (0, 4.75) years, while that in the ineffective group was 6.50 (1.00, 28.25) years ( Z=-2.315, P=0.021).The age of treatment with channel blockers was (27.90±12.99) years in the effective group and (32.00±13.21) years in the ineffective group, and there was no significant difference between the two groups. The delay time of channel blocker treatment in effective group was (30.25±11.07) years, while that in ineffective group was (14.30±9.60) years ( t=-3.274, P=0.005). Conclusions:In SCCMS, the effect of channel blockers was related to the delay time of treatment. Channel blocker was more effective the sooner it was started after the onset of symptoms. The average age of onset of SCCMS patients with positive responses to cholinesterase inhibitor was younger, but the delay time of channel blocker therapy was longer, resulting in poor therapeutic effect.