A case of overlap myoclonic epilepsy with ragged-red fibers-Leigh syndrome associated with mitochondrial DNA 8344A>G mutation / 中华神经科杂志

Overlap myoclonic epilepsy with ragged-red fibers (MERRF)-Leigh syndrome is a rare mitochondrial encephalomyopathy. A case of MERRF-Leigh syndrome associated with mitochondrial DNA 8344A>G (m.8344A>G) mutation was reported in this article. The patient has suffered from the disease since 15-year old with myoclonus, exercise intolerance, ataxia, limb weakness, dysphasia, dyspnea, blurred vision and hearing loss. Magnetic resonance imaging revealed lesions on right thalamus, bilateral medulla and lumbar spinal cord and atrophy of cervical spinal cord. Electromyography showed predominantly axonal damage of both sensory nerve and motor nerve. Histochemical analyses revealed ragged red fibers, ragged blue fibers, succinate dehydrogenase-stronghly reactive vessels and decreased cytochrome oxidase activity. Gene tests demonstrated a high level of m.8344A>G mutation and m. 14484T>C mutation. MERRF-Leigh overlap syndrome with m.8344A>G mutation was rare. Bulbar paralysis following myoclonus is the main clinical symptom.

Summary of the 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease / 中华神经科杂志

The 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease was held in Perth, Australia from December 4 to 6, 2019. This article mainly introduces the clinical research of this meeting, including epidemiology, non-motor symptoms, auxiliary examinations and biomarkers, etc., while the basic research includes genomics and genetics, protein metabolism abnormalities, neuroimmunity and inflammation, synapse pathology and preclinical treatment strategies,

Limb-girdle muscular dystrophy / 中华神经科杂志

Limb girdle muscular dystrophy (LGMD) is characterized by progressive proximal muscle weakness with high genetic heterogeneity.LGMD is the fourth prevalent form of muscular dystrophies in the adult neurology department.Since most patients are juvenile-or adult-onset and present as limb muscle weakness,it would be easily misdiagnosed as myositis or metabolic myopathies.The final diagnosis depends on muscle immunohistochemical staining,Western blotting and genetic screening.In China,LGMD2B and LGMD2A are the most prevalent forms,accounting for 74.3％ in overall LGMD.Patients with LGMD2B usually have onset age between 19-27 years old.LGMD2B patients present as asymptomatic hyper creatine kinase emia (CK) at the early stage,and later develop to typical proximal muscle weakness with bilateral calf atrophy and extremely high serum CK.The onset age of LGMD2A patients is between 7-18 years old.LGMD2A patients presented as proximal muscle weakness with or without bilateral scapular winging and Achilles tendon contractures.Serum CK can be moderately or highly elevated.Current therapies are mainly supportive and the effective treatment is insufficient.The ongoing global elinical history study and gene therapy bring us new hope for treating LGMD in the coming future.

Early-onset facioscapulohumeral muscular dystrophy with Coats syndrome: a case report / 中华神经科杂志

Early-onset facioscapulohumeral muscular dystrophy is a rare clinical syndrome characterized by severe muscle weakness started in early childhood,with extramuscular manifestations such as retinal vascular tortuosity,sensorineural hearing loss and epilepsy.Herein we report a case with early-onset facioscapulohumeral muscular dystrophy and Coats syndrome.Early diagnosis of Coats syndrome is critical for the prognosis.

Summary of the Twenty?ninth International Symposium on Amyotrophic Lateral Sclerosis?Motor Neuron Disease / 中华神经科杂志

The 29th International Symposium on Amyotrophic Lateral Sclerosis (ALS)?Motor Neuron Disease was held in Glasgow from December 7 to 9, 2018. The symposium was divided into 23 topics, with 109 special reports and paper′s exchange and 515 posters exchange. This article briefly introduces some topics of the symposium, involving basic researches, clinical researches and clinical trials. Among these, basic researches include genetics and genomics, axonal degeneration, disease models, and preclinical therapeutic strategies; Clinical researches include epidemiology, clinical progression, cognitive and psychological change, neuropathology, neurophysiology, neuroimaging and biomarkers.

Summary of the Twenty-ninth International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease / 中华神经科杂志

The 29th International Symposium on Amyotrophic Lateral Sclerosis (ALS)-Motor Neuron Disease was held in Glasgow from December 7 to 9, 2018. The symposium was divided into 23 topics, with 109 special reports and paper′s exchange and 515 posters exchange. This article briefly introduces some topics of the symposium, involving basic researches, clinical researches and clinical trials. Among these, basic researches include genetics and genomics, axonal degeneration, disease models, and preclinical therapeutic strategies; Clinical researches include epidemiology, clinical progression, cognitive and psychological change, neuropathology, neurophysiology, neuroimaging and biomarkers.

A clinical and natural history research on mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes / 中华神经科杂志

Objective To summarize the clinical features,natural history and causes of death of mitochondrial encephalomyopathy,lactic acidosis and stroke-like episodes (MELAS).Methods We retrospectively evaluated the clinical findings of 64 patients diagnosed as MELAS more than 3 years (death cases excluded) in Huashan Hospital from January 2005 to March 2017 and analyzed the natural course and the causes of death of the disease.Results Among 64 patients,the male-to-female ratio was 1.3 ∶ 1.Median onset age was 20.5 (16.8) years.The peak of incidence age was from 14 to 22 years.The most common features of MELAS in acute phase were seizures (48/64,75.0％),headache (41/64,64.1％),blurred vision (37/64,57.8％),nausea and vomiting (27/64,42.1％),fever (25/64,39.1％),mental and behavioral disorder (24/64,37.5％).Lactate dehydrogenase (31/60,51.6％),resting blood lactic acid (43/58,74.1％) and cerebral spinal fluid lactic acid (9/9) were elevated.Abnormal findings in electroencephalogram (36/40,90.0％),electrocardiogram (37/47,78.7％),electromyography (25/41,61.0％) were detected.In this cohort,20 patients (20/64,31.3％) with MELAS were dead.A Kaplan-Meier survival curve showed the estimated overall median survival time was 12 years.The median survival time of the group onset before sex maturity (≤ 14 years) was 8 years and that in the group onset after sex maturity (＞ 14 years) was 21 years.The causes of death were cardiogenic incidence (4/20,20.0％),pulmonary infection (4/20,20.0％),lactic acidosis (2/20,10.0％) and status epilepticus (2/20,10.0％).Conclusions MELAS is usually presented in young people associated with high mortality rate.The leading causes of death are cardiogenic,pulmonary infection and lactic acidosis.

Safety and efficacy of botulinum toxin type A made in China for treatment of post-stroke upper limb spasticity: a randomized double-blind controlled trial / 中华神经科杂志

Objective To evaluate the safety and efficacy of botulinum toxin type A for injection in the treatment of post-stroke upper limb spasticity (dosage was 200 U,or 240 U if combined with thumb spasticity).Methods The study was a multi-center,stratified block randomized,double-blind,placebocontrolled trial.All the qualificd subjects were from 15 clinical centers from September 2014 to February 2016.They were randomized (2∶1) to injections of botulinum toxin type A made in China (200-240 U;n =118) or placebo (n =60) in pivotal phase after informed consent signed.The study was divided into two stages.The pivotal trial phase included a one-week screening,12-week double-blind treatment,followed by an expanded phase which included six-week open-label treatment.The tone of the wrist,finger,thumb flexors was assessed at baseline and at weeks 0,1,4,6,8,12,16 and 18 using Modified Ashworth Scale (MAS),disability in activities of daily living was rated using the Disability Assessment Scale and impaction on pain,muscle tone and deformity was assessed using the Global Assessment Scale.The primary endpoint was the score difference between botulinum toxin type A and placebo groups in the tone of the wrist flexor using MAS at six weeks compared to baseline.Results Muscle tone MAS score in the wrist flexor of botulinum toxin type A and placebo groups at six weeks changed-1.00 (-2.00,-1.00) and 0.00 (-0.50,0.00) respectively from baseline.Botulinum toxin type A was significantly superior to placebo for the primary endpoint (Z =6.618,P ＜ 0.01).The safety measurement showed 10 subjects who received botulinum toxin type A had 13 adverse reactions,with an incidence of 8.47％ (10/118),and three subjects who received placebo had three adverse reactions,with an incidence of 5.00％ (3/60) during the pivotal trial phase.All adverse reactions were mild to moderate,none serious.There was no significant difference in adverse reactions incidence between the botulinum toxin type A and the placebo groups.During the expanded phase three subjects had four adverse reactions and the incidence was 1.95％.All adverse reactions were mild,none serious.Conclusion Botulinum toxin type A was found to be safe and efficacious for the treatment of post-stroke upper limb spasticity.Clinical Trial Registration:China Drug Trials,CTR20131191

Characteristics of muscle MRI of lower limbs in patients with GNE myopathy / 中华放射学杂志

Objective To summarize the characteristic of muscle MRI of lower limbs in patients with GNE myopathy and to explore the correlation between the fatty degenerative score of muscle MRI and clinical phenotype.Methods This was a prospective study. Seventeen patients with genetically confirmed GNE myopathy,having lower limb muscle MRI test and completed clinical and laboratory data.The degree of fatty degeneration in 18 muscles of lower limbs in each patient was grading.According to the GM-W score, these patients were divided into two groups.GM-W score≤3 were divided into mild group(n=8)and GM-W score≥ 4 were divided into severe group(n=9). Kruskal-Wallis test was used to compare the fatty degenerative score in different muscles of the thigh and the calf level;Mann-Whitney U test was used to compare score of the same muscle between mild and severe group;Spearman rank correlation test was used to analysis the relationship between fatty degenerative score and the course of disease (year), GM-W score, creatinine kinase (IU/L), respectively.Results At the thigh level, the most severely involved muscle of GNE myopathy was semi-tendinosusand adductor, followed by semi-membranous, biceps femoris and gracilis. There was no statistically significant difference in the fatty degenerative score of the above-mentioned muscles (P=0.058). At the calf level, the most severely involved muscle was medial of soleus which score was 4.0(3.0, 4.0), followed by tibialis anterior,extensor digitorum longus and lateral of soleus. There was no significant difference of the above (P=0.259).The fatty degenerative score showed difference between the mild and severe group at sartorius and adductor(P<0.05).At the calf level,the fatty degenerative score in peroneus longus, medial of soleus, lateral of soleus, medial of gastrocnemius and lateral of gastrocnemius showed difference between groups(P<0.05).The total score of fatty degenerative of Lower limb muscles was positively correlated with GM-W score(r=0.730, P<0.05). There were positive correlations between the score of fatty degenerative of the sartorius,peroneal longus,lateral of soleus,medial of gastrocnemius, lateral of gastrocnemius and the GM-W scores( r=0.630,0.845,0.569,0.591,0.640, 0.659,P<0.05).The total score of fatty degenerative of Lower limb muscles was not correlated with the level of creatine kinase(P=0.582), course of disease(P=0.601) and age of onset(P=0.850). Conclusions GNE myopathy in the thigh level within the adductor muscle and posterior muscle involvement, calf level to the tibial anterior muscle early involvement. The total score of fatty degenerative of lower limb muscles is positively correlated with GM-W score,but not correlated with the level of creatine kinase,course of disease and age of onset.

Skeletal muscle MRI of lower limbs in patients with Dysferlinopathy / 中华放射学杂志

Objective To investigate muscle MRI characteristics of lower limbs in Chinese patients with dysferlinopathy. Methods Detailed clinical information of 42 patients with dysferlinopathy confirmed by Western blot or DYSF genetic test were studied retrospectively, including age, course, serum creatinine kinase (CK) and modified Gardner?Medwin and Walto score, and T1WI, STIR image. Each muscle was scored according to its fatty degeneration evaluated on T1WI (fat replacement score). The patients were divided into 3 groups:Miyoshi myopathy (MM), limb girdle muscle dystrophy 2B (LGMD 2B) and preclinical stage (asymptomatic hyperCKemia or exercise intolerance). The data including the scores of each muscle between MM and LGMD 2B were compared by ANOVA analysis and Chi square test. The relationship of fatty replacement score with course and GM?W score was analyzed by Spearman rank correlation analysis. Results Thirty nine patients underwent thigh MR scanning and 36 patients underwent leg MR scanning. At the thigh level, there is no specificity that the fatty replacement was found in both the anterior and posterior parts while the rectus femoris, sartorius and gracilis were rarely involved. At the leg level, the most severely involved muscle was the soleus, followed by gastrocnemius. It formed a sandwich?like pattern that the anterior part (anterior and posterior tibial muscle and peroneus longus muscle) and the posterior part (medial and lateral gastrocnemius) were less involved than the middle part (soleus). Of 42 patients, 14 cases were MM, and 24 were LGMD 2B. The fat replacement score of each muscle between two groups showed no significant differences (F=0.066 to 3.907,P all>0.05) except for the adductor muscle (F=5.239, P=0.028), semimembranosus (F=6.703, P=0.014) and semitendinosus (F=7.689, P=0.009). Of 4 pre?symptomatic cases, 3 showed edema of posterior part of leg on STIR, especially soleus. In all patients, the fat replacement score correlated positively with course (rs=0.732, P=0.000) and GM-W score (rs=0.485, P=0.001). Conclusions The MRI of Chinese patient with dysferlinopathy was characterized by the milder involvement of rectus femoris, sartorius and gracilis muscle in the thigh and a sandwich?like pattern in the leg, which is helpful for differential diagnosis of inflammatory Myopathy versus other types of muscular dystrophy.

Advances of serum antibodies in myasthenia gravis / 中华检验医学杂志

Myasthenia gravis (MG) is an immune-mediated disorder of the neuromuscular junction that is characterized by fluctuating muscle weakness.Acetylcholine receptor antibody (AchR-Ab) is the first MG specific antibody being elucidated,however,the discovery of many other MG specific or related antibodies enriches its immunopathogenesis greatly.The detection of antibodies is very important for the diagnosis and classification of MG.It can be used to guide the clinical management and evaluate the response to treatment as well.With the development of laboratory medicine,the methods of antibody detection are also being optimized.In this paper,we will review the serum antibodies closely associated with MG and their mechanisms,detection methods and clinical significance.

Clinical study on the treatment of acne vulgaris due to phlegm-heat accumulation with Wendan decoction / 国际中医中药杂志

Objective To observe the clinical efficacy of Wendan decoction in the treatment of phlegm-heat accumulation type acie vulgaris.Methods 62 patients with phlegm-heat accumulation type ache vulgaris were randomly divided into a treatment group and a control group randomly,with 31 patients in each group.The control group was given dietary advice and skin cleansing techniques,while the treatment group was given oral administration of Wendan decoction on the basis of the control group.Results ①skin damage comparison:after the treatment,skin damage symptoms such as tenderness (0.71 ±0.32),redness (0.47±0.63),cyst(0.59±0.53),and tubercle (0.63±0.54) in the treatment group were significantly improved than the control group [the values were (1.12±0.32),(1.44±0.21),(1.40±0.36),(1.18±0.43),respectively] (P＜0.05).②symptoms score comparison:The symptoms score in the treatment group after the treatment (42.95±1.53) was significantly improved than that before the treatment (52.89± 1.98),(P＜0.05),and also obviously better than the control group after the treatment.③clinical efficacy comparison:Total efficacy was 96.77％ in the treatment group and 54.83％ in the control group,showing marked difference(P＜0.05).Conclusion Wendan decoction is effective in treating phlegm-heat accumulation type acne vulgaris.

Clinical features and electron transfer flavoprotein dehydrogenase gene mutation analysis in 35 Chinese patients with lipid storage myopathy / 中华神经科杂志

Objective To investigate the clinical features and electron transfer flavoprotein dehydrogenase (ETFDH) gene mutations in 35 Chinese patients with lipid storage myopathy. Methods The clinical data of 35 cases with lipid storage myopathy confirmed by muscle biopsy were collected. The sequences of all 13 exons of ETFDH were analyzed. Results All 35 patients showed proximal weakness. Ten of them demonstrated masseter weakness and 28 of them showed weakness in neck flexion. Twenty-nine of 32 patients who were followed up showed improvement after treatment with VitB2 and CoQ10. Mutations of ETFDH were found in 30 of 35 patients,which included 8 homozygosises,20 compound heterozygosises and 2 single heterozygosises. Fourteen novel mutations were found, including 9 missense mutations ( c. 3G > C, c. 152G>A, c. 191G > A, c.349G>C, c.433G>C, c. 949C > A, c. 1454C > G, c. 1744A >T and c. 1763A>G), 1 nonsense mutation(c. 172G>T), 2 deletions(c. 1282_1283del and 1773_1774del) and 2 splice mutations (c. 405 + 1G > T and c. 1691 -3C > G). Nine of them showed c. 250G > A mutation and 6 of them showed c. 770A > G mutation. Conclusions Lipid storage myopathy is presented as proximal weakness. Multiple acyl-CoA dehydrogenase deficiency caused by mutations of ETFDH is the major cause of lipid storage disease in this group. ETFDH c. 250G > A and c. 770A > G mutations show a high frequency.

Analysis of circulating Th17 cells and regulatory T cells in mynsthenia gravis / 中华神经科杂志

Objective To investigate the percentage of Th17 cells and regulatory T cells in patients with myasthenia gravis (MG) and observe the effects of methylprednisolone infusion on these cells.Methods The circulating Th17 cells and CD4+ CD25highT cells of 66 MG patients and 35 healthy controls were detected using four colour cytometry. The relationship between these cells and MGFA score in 18 MG patients and in 8 MG patients after methylprednisolone was infusion were also analyzed in this study. Results There was significant difference in the percentage of circulating Th17 cells between MG patients (2. 61% ±0. 28% ) and the healthy controls (0. 94% ± 0. 12%, Z = 4. 059, P = 0. 0001 ). Methylprednisolone therapy significantly reduced the percentage of circulating Th17 cells from 4. 72% ± 1.21% to 1.81% ± 0. 69%(Z = 1. 995,P = 0. 0460). In addition, the percentage of Th17 cells showed a positive correlation with MGFA score(r =0. 5359, P =0. 0219). Conclusions Circulating Th17 cells are elevated in MG patients.Methylprednisolone therapy can reduce such elevation, and this may be important in mediating symptomatic improvement in MG patients.

Comparison on the clinic features and neuromyelitis optica-IgG positive rate of neuromyelitis optica and multiple sclerosis / 中华神经科杂志

Objective To compare the clinic features of neuromyelitis optica (NMO) and multiple sclerosis(MS).To compare the positive rate of NMO-IgG in NMO,MS and other related diseases,and determine whether it can be considered as a biomarker for differential diagnosis.Methods Detected serum NMO-IgG in 34 NMO patients,22 MS patients,24 high risk syndrome,5 clinical isolated syndrome,and 35 patients with other neumlogical diseases.Compared the clinic features(onset age,severity,prognosis,MRI lesions,autoimmune antibodies,CSF)of 34 NMO patients and 22 MS patients.Results The onset age of NMO is older than that of MS.It is more severe and with worse prognosis than MS.Longitudinal spinal cord lesions are easily found in NMO.NMO-IgG positive rate in NMO and high risk syndrome patients are 58.8% (20/34)and 45.8%(11/24)respectively,which are higher than that in MS(1/22),clinical isolated syndrome(1/5)and other neurological diseases(1/35;x2=37.2,P<0.01).The positive rate may have a relationship with the length of spinal cord lesions.Condusions MS and NMO are probably different diseases.NMO-IgG positive rate in NMO is significandy higher than that in MS,it can be considered as a biomarker for differential diagnosis.

Diagnosing limb-girdle muscular dystrophy type 2A by Western blot analysis / 中华神经科杂志

Objective To evaluate Western blot analysis in diagnosing limb-girdle muscular dystrophy type 2A (LGMD2A). Methods The clinical records including their pathological and biochemical results of 4 patients with LGMD type 2 were reviewed. Histochemical and immunohistochemical staining were performed on muscle biopsy specimens from the four patients. The expressions of dysferlin and calpain-3 in muscles were analyzed by Western biol. Results All 4 LGMD patients shared some common clinical features, such as dorsal muscular atrophy of lower limbs and remarkably elevated CK. The immunohistochemical results showed partial or complete deficiency of dysferlin staining in all 4 LGMD patients. However, Western blot revealed that the calpain-3 protein in the muscle of patient 1 was completely absent, who was later diagnosed with LGMD2A. The other 3 patients had complete dysferlin deficiency with reduced calpain-3 expression and they were confirmed to be LGMD2B. Conclusions Western blot analysis of calpain-3 and dysfcrlin can be used to differentiate LGMD2A which shows absence of calpain-3 from other LGMD types which show dysferlin deficiency. Western blot is an invaluable method in clinical diagnosis of LGMD2A.

Clinical and immune pathological characteristics of skeletal muscle in UCMD with sarcolemma-specific collagen Ⅵ deficiency / 复旦学报（医学版）

Objective To investigate the clinical and immune pathological features of Ullrich congenital muscular dystrophy (UCMD) with sarcolemma-specific collagen Ⅵ deficiency (SSCD). Methods The clinical aspects of 2 patients with SSCD were analyzed and the muscle specimens from them were studied by immunofluorescence. Results SSCD patients were clinically characterized by neonatal hypotonia with proximal contractures and distal hyperlaxity at birth or early infancy. Immunofluorescence staining revealed partial deficiency of collagen Ⅵ. Double immunofluorescence staining revealed sarcolemma-specific deficiency of collagen Ⅵ, while collagen Ⅳ intact in thesarcolemma. Conclusions The clinical picture and severity of UCMD with SSCD are similar to the cases with collagen Ⅵ complete deficiency. The proximal contractures and distal hyperlaxity are the clinical hallmarks of both types. Sarcolemma-specific collagen Ⅵ deficiency can be better demonstrated by double immunofluorescence staining.

Immunoadsorption therapy in late-onset myasthenia gravis / 中华肾脏病杂志

Objective To investigate the removal effect of immunoadsorption (IA) on associated antibodies and the efficacy in late-onset myasthenia gravis (MG). Methods A total of 25 late-onset MG patients were randomly selected to enroll in this study. IA therapy was given to 10 patients (IA group), while immunoglobin (0.4 g·kg-1·d-1) was administrated to the other 15 patients for 5 days(Ig group). The titers of Titin antibody (Titin-ab), acetylcholine receptor antibody (AchR-ab) and presynaptic membrane antibody (PrsmR-ab) were detected before and after the treatment. Quantitive MG (QMG) score was assessed before and immediately after the entire course of treatment. The clinical efficacy, the duration of respiratory support and in-hospital were compared between two groups. The correlation between three antibodies and QMG score was also analyzed. Results Compared with that before treatment, the Titin-ab PIN values, the AchR-ab PIN values, and the PrsmR-ab P/N values of IA group were all decreased significantly after treatment (P<0.05, respectively). The P/N value of Titin-ab in IA group was decreased by 54.7%～3.5%, which was significantly higher than that in Ig group(19.9%±3.1%) (P<0.01). QMG score reduced by 42.4%± 4.2% and 23.8%±3.7% in IA group and Ig group respectively (P<0.01, respectively). Symptoms were effectively ameliorated by both treatments, but the effective power of IA group was higher than that of Ig group (70% vs 40%, P<0.05). Remission time of IA group was significantly shorter than that of Ig group [(5.38±0.42) d vs (8.4±1.54) d, P=0.008), so was the duration of in-hospital [(13.50±0.50) d vs (16.50±0.50) d, P<0.05). The number of respiratory support in IA group was less than that in Ig group (1/10 vs 6/15, P<0.05). By the Pearson correlation analysis, the decrease of Titin-ab showed a better longitudinal correlation with the decrease of QMG score than the other two antibodies (r=0.6315, P<0.01). Conclusion IA can rapidly and effectively clear the pathogenic antibodies of late-onset MG patients and its short-term clinical efficacy is better than immunoglobin.

Clinical and pathological features in 3 Chinese patients with Ullrich congenital muscular dystrophy / 中华神经科杂志

Objective To investigate the clinical and pathological features of Uurich congenital muscular dystrophy (UCMD). Methods The clinical aspects of 3 patients with UCMD, 2 with Duchenne muscular dystrophy (DMD) and 1 with congenital muscular dystrophy 1A (MDC1A) were analyzed. And the muscle specimens from these patients were studied using immunohistochemistry and immunofluorescence staining. Results UCMD was clinically characterized by neonatal hypotonia with proximal contracturos and distal hyperlaxity at birth or early infancy. Histochemical staining revealed muscle frber hypoplasia andinterstitium proliferation. Immunohistochemistry staining with anti-collagen Ⅵ antibody revealed complete(1/3) or partial (2/3) deficiency of collagen Ⅵ in the sarcolemma and interstitial matrix. Partial deficiency was better demonstrated by immunofluorescence staining. Conclusions The proximal contractures and distal hyperlaxity is the clinical hallmark of UCMD. Collagen Ⅵ immunolabelling can confirm the diagnosis of UCMD.

Diseases which should be differentiated from motor neuron disease / 中国实用内科杂志

Motor neuron disease(MND)is a kind of degenerating disease which involves the upper and lower motor neurons.Irreversible muscle weakness,muscle atrophy and pyramidal sign are its main clinical manifestations.Diagnosis of MND should be made with caution because no effective treatment can change the unceasing course.This article specifies the diseases which mimic MND:cervical spondylosis,Hirayama disease,multifocal motor neuropathy,monoclonal gammopathy with motor neuropathy,paraneoplastic motor neuron syndrome,post-polio syndrome,spinal muscular atrophy,Kennedy syndrome and diabetic amyotrophy.Wish it do some favor to clinical doctors.