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.

Orthostatic hypotension （OH） is the main symptom of cardiovascular autonomic dysfunction in the elderly population，which often manifests as orthostatic dizziness，syncope，and traumatic falls. OH often has a poor prognosis and is one of the causes of cognitive impairment in the elderly，and therefore，it is important to explore the pathogenesis of OH and related interventions. The vestibular system participates in orthostatic blood pressure regulation through vestibular sympathetic reflex，and dysfunction of the vestibular system can lead to the dysfunction of orthostatic blood pressure regulation，which further leads to OH. Previous studies have shown that galvanic vestibular stimulation （GVS） can regulate the function of the cardiovascular system，and different stimulation parameters have different target effects on blood pressure. This article summarizes the role of vestibular system and GVS in orthostatic blood pressure regulation，in order to provide a reference for the future research on the application of GVS in the treatment of OH.

This study reports a pair of sisters with generalized dystonia and 3-methylglutaconic aciduria，including clinical phenotype analysis and genetic testing. Through medical history collection，imaging and laboratory examinations，and genetic analysis，it was found that the two patients had a homozygous mutation，c.1687T>C，in the Serac1 gene on chromosome 6，which was located at exon 16. The Serac1 gene mutation with adolescent-onset generalized dystonia as the main clinical phenotype has not been reported in the literature before. This study finds for the first time that Serac1 mutation at this site can cause generalized dystonia，which can provide a reference for the diagnosis and treatment of similar cases in the future.

Objective To investigate the clinical and radiological features of patients with different phenotypes of multiple system atrophy （MSA）. Methods A total of 400 patients with MSA who attended the outpatient service or were hospitalized in Department of Neurology，Chinese PLA General Hospital，were enrolled，among whom there were 294 patients with MSA-cerebellar type （MSA-C） and 106 patients with MSA-Parkinsonian type （MSA-P）. The t-test and the chi-square test were used to analyze the clinical manifestations，radiological features，and blood biochemical indicators of the two groups. Results As for clinical manifestations，there were significant differences in cerebellar symptoms，constipation，and Babinski sign between MSA-C patients and MSA-P patients （P<0.05）. As for radiological features，positron emission tomography/computed tomography （PET/CT） showed that MSA-P patients had a typical reduction in DAT uptake in the putamen and the caudate nucleus，while magnetic resonance imaging showed that compared with the MSA-C group，the MSA-P group had a significantly higher proportion of patients with putamen fissure sign or white matter demyelination； for MSA-C patients，PET/CT showed cerebellar hypometabolism，and magnetic resonance imaging showed the cross sign and high signal intensity in the pontine arm，as well as a significantly higher proportion of patients cerebellar and pontine atrophy than MSA-P patients （P<0.05）. As for laboratory markers，MSA-P patients had a significantly lower level of uric acid than MSA-C patients （P=0.029）. Conclusion Patients with different subtypes of MSA have specific clinical features，radiological features，and uric acid level，which has a certain significance in the accurate diagnosis of MSA.

Objective To investigate the features of non-motor symptoms and transcranial substantia nigra ultrasound in essential tremor （ET）. Methods General data were collected from 50 patients with ET and 50 healthy controls，and non-motor symptom scales and transcranial nigra sonography （TCS） were used for assessment. The t-test，the non-parametric test，and the chi-square test were used for comparison of general data，scale assessment results，and TCS findings between the two groups. Results There were significant differences between the ET group and the healthy control group in the total scores of NMSS，MoCA，HAMA，HAMD，PSQI，ESS，and FSS and the incidence rates of cognitive impairment，moderate or severe anxiety，poor sleep，and daytime sleepiness，while there were no significant differences in the incidence rates of moderate or severe depression and fatigue between the two groups. There were no significant differences between the two groups in terms of “hyperechoic area of the left side” “hyperechoic area of the right side” “hyperechoic area of both sides” “S/M value” “the number of cases with a hyperechoic area of >0.2 cm² for at least one side” “the number of cases with an S/M ratio of >7%” and “the number of cases with positive TCS results”. Conclusion Compared with healthy controls，ET patients are more susceptible to cognitive impairment，anxiety，depression，poor sleep quality，daytime sleepiness，and fatigue，and the non-motor symptoms of ET should be taken seriously in clinical practice. TCS examination has a relatively low diagnostic value in ET patients and healthy individuals.

Objective To investigate the cause，pathogenesis，clinical manifestations，treatment，and prognosis of secondary hemichorea based on related clinical features and examinations by summarizing the medical records of 25 patients with secondary hemichorea-hemiballism. Methods An analysis was performed for 25 patients with hemichorea-hemiballism who were admitted and treated from July 2018 to April 2024，including general status，clinical features，laboratory examinations，MRI or CT examination，treatment methods，and prognosis. Results Of all 25 patients，11 （44.0%） had acute cerebrovascular diseases [including 7 cases （28.0%） of cerebral infarction，3 cases （12.0%） of cerebral hemorrhage，and 1 case （4.0%） of moyamoya disease]，13 （44.0%） had hyperglycemia，and 1 had unknown causes. Of all 25 patients with hemichorea-hemiballism after treatment of the primary disease and symptomatic treatment，18 patients had significant improvements in hemichorea symptoms，and 7 had disappearance of hemichorea symptoms. One patient experienced recurrence after half a year due to self-withdrawal of medication，and the other patients took medication regularly，with no recurrence at follow-up half a year later.Conclusion Hemichorea-hemiballism is more common in the elderly，and acute cerebrovascular disease is the most common cause of hemichorea-hemiballism，followed by hyperglycemia，with the basal ganglia as the main lesion site. In addition to the treatment of the primary disease，symptomatic treatment with haloperidol，clonazepam，or risperidone can significantly improve clinical symptoms and help to achieve a good prognosis.

Stiff-person syndrome （SPS） is a rare autoimmune neurological disorder with atypical symptoms and signs，which often leads to missed diagnosis or misdiagnosis，resulting in delayed treatment. This article reports a female patient，aged 72 years，who was diagnosed with SPS，and her symptoms were improved after symptomatic treatment including intravenous injection of human immunoglobulin，corticosteroids，clonazepam，and baclofen. It is suggested that early diagnosis and timely treatment can improve the quality of life and prognosis of SPS patients with positive anti-amphiphysin antibodies.

Objective Narcolepsy type 1 （NT1） is known to be associated with low levels of hypocretin-1 （Hcrt-1） in cerebrospinal fluid （CSF）. The standard method for Hcrt-1 measurement is radioimmunoassay （RIA） with imported reagents， but this antibody-dependent method is limited to radiation safety-certified lab， gradual radioactivity degradation， and slow turn-around time. The purpose of this study is to explore a non-radioactive， faster， and antibody independent domestic method in China for Hcrt-1 detection. Methods Repeated testing of cerebrospinal fluid from 14 clinically diagnosed NT1 patients and 10 non-narcolepsy patients was performed using liquid chromatography-tandem mass spectrometry （LC-MS/MS）technology，including the establishment and optimization of fundamental methodological procedures. The main steps involved the addition of non-radioactive isotope-labeled internal standards to the cerebrospinal fluid， followed by solid-phase extraction， mass spectrometry signal acquisition， and quantitative analysis. The results were then compared with the corresponding radioimmunoassay（RIA） findings. Results The LC-MS/MS method showed faster speed， and good linearity across a wider range of synthesized standard（5~2 500 pg/ml）， and good repeatability. Although this absolute-quantitation-based LC-MS/MS method and RIA method have different reading values in Hcrt-1 quantitation， they both can segregate NT1 group from non-NT1 group well. Conclusion Although larger cohorts are needed to set up a standard method in China，LC-MS/MS method is proved to be an easier， safer， faster， and possibly more accurate method for Hcrt-1 quantitation and detection for NT1 diagnosis.

Objective To investigate the effect of Baduanjin on mood and sleep quality in patients with mild to moderate Parkinson disease （PD） and related mechanisms. Methods A total of 110 patients with Hoehn-Yahr stage 1-3 stable PD were randomly divided into Baduanjin group and control group， with 55 patients in each group. The patients in the Baduanjin group received Baduanjin exercise for 30 minutes each time， 5 days a week for 12 weeks， and those in the control group did not do any exercise. Motor function， anxiety and depression mood， and sleep quality were assessed before exercise and after exercise for 12 weeks. Results Compared with the control group， the Baduanjin group had significant improvements in UPDRS-Ⅲ score and 6-minute walk test results. There was a significant difference in Berg Balance Scale in terms of the interaction between time and intervention. There were significant differences between the two groups in HAMA14，HAMD24，and PSQI scores. Conclusions Baduanjin can improve mood and sleep quality in patients with mild to moderate PD.

Objective To investigate the association between obstructive sleep apnea hypopnea syndrome （OSAHS） and white matter lesions （WMLs）. Methods A total of 91 patients who attended Department of Neurology and Department of Epilepsy and Sleep Disorders in The Second Affiliated Hospital of Harbin Medical University from June 2019 to December 2020 and met the diagnostic criteria for WMLs were enrolled as WMLs group， and 61 patients without WMLs were enrolled as control group. All subjects underwent brain MRI and PSG examinations， and related data were collected， including demographic data， past history， personal history， laboratory examination， and imaging findings. Results The WMLs group had a prevalence rate of OSAHS of 92.3% and an AHI of （32.85±19.86） events/hour on PSG， which were significantly higher than those in the control group （P<0.05）. The Spearman rank correlation analysis showed a strong positive correlation between WMLs severity and OSAHS severity（r=0.602 52，P<0.0001）. Conclusion The WMLs group is more susceptible to OSAHS than the control group， and the severity of WMLs is positively correlated with the severity of OSAHS.

Rapid eye movement sleep behavior disorder（RBD）， as a sleep disorder with unique clinical manifestations， is currently widely regarded as a precursor marker for α-synucleinopathies （Parkinson disease， dementia with Lewy bodies， and multiple system atrophy）. In recent years， great achievements have been made in radiological studies on isolated RBD and RBD comorbid with various α-synucleinopathies. This article reviews the research findings in RBD in terms of magnetic resonance imaging and radionuclide imaging and discusses the significance of radiological features in the diagnosis and prognosis of RBD， so as to provide a reference for subsequent research and clinical practice.

Rapid eye movement sleep behavior disorder （RBD） is a type of parasomnia closely associated with neurodegenerative diseases related to α-synucleinopathies， such as Parkinson disease， dementia with Lewy bodies， and multiple system atrophy， and early diagnosis is of great importance for disease monitoring and intervention.At present， RBD is mainly diagnosed based on video polysomnography （v-PSG） and nocturnal abnormal behaviors， but the application of v-PSG is limited by its high technical demands.Various validated RBD-related scales have become essential tools for auxiliary diagnosis， which provides methods and tools for the diagnosis of RBD and the assessment of disease progression and outcomes.

Narcolepsy（NP） is a rare central sleep disorder， and it is categorized into narcolepsy type1 （NT1） and narcolepsy type2（NT2）.The main clinical symptoms of NP include daytime lethargy， cataplexy induced by emotions， and sleep paralysis， with a peak onset during adolescence （with an age of 8‒12 years）. At present， the pathogenesis of NP remains unclear and is associated with various factors such as human leucocyte antigen （HLA）， infection， and epigenetic silencing， and the selective loss of hypocretin neurons in the hypothalamus is the key pathophysiological mechanism of NP. Pharmacological intervention is currently the main treatment method， and diagnostic delay can be as long as more than 10 years， which not only affects the social activities， academic performance， and work of patients， but also leads to mental health issues such as anxiety and depression. This article reviews the latest research findings in the epidemiology， pathogenesis， and treatment of NT1 and clarifies the deficiencies and controversies in current research， so as to provide new ideas and directions for subsequent studies.

Restless legs syndrome （RLS） is a common neurological sensory-motor disorder， and the diagnosis of RLS mainly rely on the subjective clinical symptoms described by the patient， with a lack of specific auxiliary examinations or biomarkers. The diagnosis of this disease is still challenging for atypical cases. Various other diseases may have similar clinical symptoms as RLS， such as leg discomfort， leg pain and abnormal leg movement. This article summarizes the RLS mimics that might be confused with RLS symptoms， including the neurogenic， vascular， and musculoskeletal factors that might cause leg discomfort and pain， as well as the differential diagnosis of sleep-related movement disorders with symptoms overlapped with RLS， so as to help clinicians recognize RLS phenotype and provide a reference for the diagnosis of diseases that might be confused with RLS.