Autoimmune myositis （AIM） is a group of autoimmune diseases that primarily affect muscle fibers， often accompanied by the involvement of multiple organs such as the skin，lungs，and joints.It is the most common treatable skeletal muscle disease in adults. Although most patients with AIM can achieve remission with traditional immunosuppressive therapies， their quality of life can be heavily reduced due to drug-related adverse effects and the high relapse rate and high disability rate of the disease. With the deepening understanding of the immunopathological mechanisms of AIM，various biologics targeting different components of these mechanisms have brought new hope for patients with AIM. This article reviews the advances in the treatment of AIM.

Glycogen storage disease type Ⅱ （GSD Ⅱ）， also known as Pompe disease， is a common autosomal recessive lysosomal storage disease with predominantly muscle tissue involvement， and it is caused by defects in the GAA gene which encode acid α-D-glucosidase in lysosomes. According to the age of onset and the main organs involved， it is classified into infant-onset Pompe disease （IOPD） and late-onset Pompe disease（LOPD）. The diagnosis of this disease depends on the reduction in GAA enzyme activity， the detection of GAA gene mutations， and muscle tissue biopsy， and early diagnosis and treatment are crucial for prognosis. Recombinant human GAA（rhGAA） enzyme replacement therapy prepared by the gene recombination technology is currently the main disease-modifying treatment method for Pompe disease， among which the earliest drug alglucosidase α has shown good efficacy in improving muscle strength and respiratory function and prolonging survival time， and the new-generation rhGAA drugs avalglucosidase α and cipaglucosidase alfa provide new options， especially for patients with poor outcomes and severe symptoms. Substrate ablation therapy and gene therapy are still under exploration， and disease-modifying therapies combined with nutritional and exercise therapies and multidisciplinary long-term management will achieve twice the result with half the effort.

Hereditary skeletal muscle ion channelopathies are a group of heterogeneous hereditary diseases caused by mutations in the skeletal muscle ion channel genes.According to clinical manifestations， hereditary skeletal muscle channelopathies are classified into two major categories：non-dystrophic myotonia and periodic paralysis. Non-dystrophic myotonia includes myotonia congenita， paramyotonia congenita， and sodium channel myotonia. Periodic paralysis includes hypokalemic type， normal serum potassium type， hyperkalemic type， and Andersen-Tawil syndrome. Because of an overlap between non-dystrophic myotonia and periodic paralysis in clinical phenotype and molecular mechanism， a few patients can simultaneously exhibit the phenotypes of both conditions， indicating that hereditary skeletal muscle channelopathies are a continuity in the clinical spectrum. This article reviews the classifications， clinical manifestations， diagnostic criteria， genetic pathological types， pathogenic mechanisms， and treatment approaches and progress of hereditary skeletal muscle ion channelopathies.

Sporadic late-onset nemaline myopathy （SLONM） is a rare， acquired， and treatable myopathy with a subacute or chronic progressive clinical course， characterized by asymmetric muscle atrophy and weakness in the axial and limb muscles， with or without involvement of respiratory and cardiac muscles. The only definitive diagnostic method at present is the identification of rods accumulation in muscle fibers by muscle biopsy pathology. This article provides a review of the clinical manifestations， diagnostic evaluations， muscle pathology， and advances in the treatment of SLONM.

Duchenne muscular dystrophy is the most common genetic neuromuscular disease and is also a severely disabling and fatal disease that seriously harms the health of children. Treatment regimens are rapidly advancing with a gradually deeper understanding of the disease. This article introduces the etiology， pathogenesis， clinical manifestations， auxiliary examinations， diagnosis， and differential diagnosis of the disease， with a focus on the advances in the treatment of Duchenne muscular dystrophy in recent years， in order to enhance the management skills of neurologists， pediatricians， and other related specialists.

Lipid storage myopathy （LSM） is a lipid metabolic disorder characterized by excessive lipid droplet accumulation in muscle fibers. Classic multiple Acyl-CoA dehydrogenase deficiency （MADD）， also known as glutaric aciduria type Ⅱ， is a disease with various clinical manifestations caused by mutations in electron transfer flavoprotein （ETF） and ETF-ubiquinone oxidoreductase. In recent years， a large amount of evidence has shown that classic late-onset MADD caused by mutations in the electron transfer flavoprotein dehydrogenase gene is the main cause of LSM. Besides classic MADD， many other diseases with similar changes in blood acylcarnitines and urinary organic acids can also cause LSM， and such diseases are call MADD-like disorders or MADD spectrum. This article reviews the clinical， pathological， biochemical， and molecular features of LSM with various etiologies and the latest advances in treatment， with a focus on the latest findings associated with MADD spectrum.

Mitochondrial diseases are a group of hereditary disorders characterized by impaired oxidative phosphorylation in the mitochondrial respiratory chain caused by defects in either mitochondrial DNA or nuclear DNA， and such diseases have complex and diverse clinical manifestations and often involve multiple organs and systems， with the main manifestation of lesions in the nervous system and muscles due to their high energy demands. At present， there is still a lack of effective therapies for most mitochondrial diseases， and therefore， multidisciplinary management is essential in clinical practice， integrating various therapeutic approaches to provide personalized treatment regimens for patients with mitochondrial diseases. The primary treatment principle involves the timely correction of pathological and physiological abnormalities through pharmacological interventions， dietary modifications， and exercise management， along with the prompt treatment of system-specific impairments and the prevention of potential complications.

To investigate the association of bare-metal stent （BMS）， drug-coated balloon（DCB）， and plain balloon（PB） with postoperative restenosis in the treatment of vertebral artery origin stenosis （VAOS）. Methods The patients with symptomatic VAOS who underwent revascularization in our center were enrolled and divided into BMS group， DCB group， and PB group according to their treatment modality. The primary outcome was 12-month restenosis rate （≥50% stenosis）， and secondary outcomes included postoperative residual stenosis rate， 3- and 6-month restenosis rates， and 3-month good functional outcome （modified Rankin Scale score ≤1）. The binary logistic regression analysis was used to assess the effect of different treatment modalities on outcome. Results The 12-month restenosis rate was 29.3% in the BMS group， 24.4% in the DCB group， and 42.9% in the PB group， with no significant difference between the three groups（P=0.234）. There was a significant difference in the distribution of postoperative residual stenosis between groups （P<0.001），and the BMS group had a significantly higher non-residual stenosis rate than the DCB group and the PB group （95.9% vs 37.8%/14.3%）. There was no significant difference in 3-month restenosis rate between the BMS group and the DCB group （7.5% vs 17.8%， P=0.129）， and the PB group had a 3-month restenosis rate of 39.3%， which was significantly higher than that in the other two groups （both P<0.05）. There was no significant difference in 6-month restenosis rate between the BMS group and the DCB group （8.2% vs 17.8%， P=0.158）， and the PB group had a 6-month restenosis rate of 39.3%， which was significantly higher than that in the other two groups （both P<0.05）. The good clinical outcome rate at 3 months was 66.7% in the BMS group， 77.8% in the DCB group， and 64.3% in the PB group， with no significant difference between groups （P=0.323）. Conclusion There is no significant difference in 12-month restenosis rate between the three treatment modalities for VAOS， and compared with PB， both BMS and DCB can reduce restenosis rate in patients with VAOS in the short term. BMS has significant clinical advantages in restoration of vascular lumen immediately after surgery.

Objective To investigate whether carotid artery stenting （CAS） is a protective factor against the progression of white matter hyperintensity （WMH） volume in patients with carotid artery stenosis. Methods A prospective study was conducted for the clinical， imaging， and follow-up data of patients with carotid artery stenosis who were treated in Zhejiang Provincial People's Hospital from January 2021 to June 2023. A total of 99 participants were included in this study， among whom 48 received CAS treatment （CAS group） and 51 did not receive CAS treatment （non-CAS group）. The two groups were analyzed in terms of baseline data and WMH volume during the 1-year follow-up. Results There were no significant differences in baseline data between the two groups （P>0.05）. There was no significant difference in overall WMH volume after follow-up between the two groups （P>0.05）， but compared with the non-CAS group， the CAS group showed a significantly lower degree of the progression of WMH volume within one year （-0.27 ml vs 2.82 ml， P<0.001）. There was a significant difference in the proportion of patients with new-onset stroke within one year between the CAS group and the non-CAS group （18.75% vs 37.25%， P=0.041）. The binary logistic regression analysis showed that CAS was an independent protective factor against the progression of WMH volume（OR=-0.37， 95%CI -0.78 to -0.03，P=0.046） and new-onset stroke within one year （OR=0.28， 95% CI 0.09 to 0.83， P=0.022）. Conclusion CAS is a protective factor against the progression of WMH volume and can effectively reduce the risk of stroke recurrence in patients with carotid artery stenosis.

Objective To investigate the changes in functional connectivity （FC） of cortical-striatal sensorimotor loop （mediating habit control）， associative loop （regulating goal-directed behavior）， and limbic loop in patients with an initial diagnosis of Parkinson disease （PD）. Methods Resting-state functional magnetic resonance imaging data were collected from 41 PD patients and 31 healthy controls. The cortical and basal ganglia regions associated with the sensorimotor， associative， and limbic loops were selected as regions of interest （ROIs）， and FC between each region of interest was calculated. The magnetic resonance images of the more affected hemisphere were aligned to exclude severe lateralization of symptoms. The correlation analysis was conducted to investigate the correlation between FC and disease severity. Results The patients with PD showed a reduction in FC within the sensorimotor loop， specifically between the left dorsolateral striatum and the left sensorimotor cortex （P<0.001）， between the right dorsolateral striatum and the left sensorimotor cortex （P=0.004）， and between the right dorsolateral striatum and the right sensorimotor cortex （P=0.004）， and there was no significant change in FC within the associative loop. The patients with PD showed a reduction in FC within the limbic loop between the bilateral ventral striata （P<0.001）. In the PD group， FC between the left dorsolateral striatum and the left sensorimotor cortex was negatively correlated with MDS-UPDRS Ⅲ score （r=-0.496， P=0.001）， with consistent results after alignment of the side with more severe symptoms. Conclusion There is a pathological reduction in FC within the sensorimotor loop that is involved in habitual control in the early stage of PD， while the associative loop for regulating goal-directed behavior remains unaffected or may be involved in early compensatory processes.

Objective To investigate the incidence rate of sarcopenia and related risk factors in patients with stroke. Methods A retrospective analysis was performed for the patients with stroke who were admitted to the stroke center of a grade A tertiary hospital in Changchun， China， from March 2023 to June 2024. The method of bioelectrical impedance was used to perform body composition analysis for all patients on day（7.0±1.0）after admission， and the incidence rate of stroke-related sarcopenia was analyzed. A binary logistic regression analysis was used to investigate the risk factors for stroke-related sarcopenia. Results A total of 666 patients were included in the study， among whom 150（22.5%） developed sarcopenia （95%CI 0.193‒ 0.257）. Low body mass index， low phase angle， low triglyceride， advanced age， and low Barthel index were risk factors for the early onset of sarcopenia in patients with stroke. Conclusion There is a relatively high incidence rate of sarcopenia in stroke patients， with complex influencing factors. Medical staff should pay more attention to the elderly stroke patients， as well as those patients with emaciation， low phase angle， low triglyceride， and limited activities of daily living. Early nutritional supplementation and functional exercise can help to prevent the onset of stroke-related sarcopenia.

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes（MELAS） is a rare hereditary mitochondrial disease that can be diagnosed by detecting mitochondrial gene mutations in peripheral blood and urine. This article analyzes a case of MELAS diagnosed by urinary mitochondrial gene detection， in order to understand the importance of urine specimens in mitochondrial gene detection.

Hereditary myopathy with early respiratory failure is a titin （TTN）-related myopathy caused by mutations in the A-band of the TTN gene.This condition is characterized by distinctive clinical and pathological features， as well as a typical skeletal muscle involvement pattern. We report a 43-year-old male patient with progressive distal limb weakness over the past three years. The initial symptom was difficulty in lifting both feet， followed by difficulty in extending the dorsum of both hands one year later. However， the patient never experienced dyspnea. The patient's past medical history was unremarkable， and there was no family history of inherited diseases.His parents were healthy. Physical examination revealed wrist drop and noticeable atrophy of the tibialis anterior in both calves. Muscle strength in the lower limbs was graded at 4 for proximal muscles and 2 for distal muscles.Laboratory tests showed a creatine kinase level of 375U/L（normal range：50~310）. Electromyography revealed myogenic injury in the bilateral tibialis anterior and the right extensor digitorum communis. Magnetic resonance imaging of the muscles showed isolated involvement of the semitendinosus muscle with severe fatty infiltration， along with significant fatty degeneration of the anterior calf muscles. Muscle biopsy of the proband showed subsarcolemmal “necklace-like” cytoplasmic bodies and the “erasure” phenomenon on NADH enzyme histochemistry. Both electrocardiogram and echocardiography showed no abnormalities. Exome sequencing of the proband identified a missense mutation in the TTN gene， c.95358C>G， p.Asn31786Lys. Sanger sequencing confirmed that the mutation was absent in both parents of the proband， indicating a de novo mutation.

Stellate ganglion block is a treatment method commonly used in clinical practice. In recent years， more and more studies have shown that stellate ganglion block can effectively alleviate central post-stroke pain， central pain after spinal cord injury， and central pain in Parkinson disease， which has a broad application prospect in the treatment of central pain. This article reviews the studies on stellate ganglion block for the treatment of central pain in order to explore feasible therapeutic methods for the treatment of central pain and provide a reference for its clinical application.

Between PFO and ischemic stroke has been confirmed， and the concept of PFO-AS was officially established in 2020. Contradictory embolism is considered the main pathogenesis of PFO-AS. Fibrinogen， a coagulation factor mainly synthesized by the liver， is closely related to thrombosis and is also an important risk factor for occurrence and recurrence of ischemic stroke， Its level is closely related to polymorphism of fibrinogen promoter. Currently analyzed fibrinogen β（FGβ） there more than 10，which HindⅢ（β-148C/T） gene polymorphism in the FGβ gene promoter region is closely related to plasma fibrinogen level and ischemic stroke. Therefore， a better understanding of genetic variation and susceptibility gene may be one of the best methods to help us prevent，diagnose，treat and improve the prognosis of stroke in the early stages.