Abstract An 18-year-old female with Systemic Lupus Erythematosus (SLE) presented with bilateral thigh pain, fever, and diarrhea three days before admission. Diagnosed with SLE one month earlier, she reported prior symptoms, including joint pain, malar rash, hair loss, and hyperpigmented lesions. Initial investigations revealed elevated transaminase levels (AST 355, ALT 132), positive ANA, decreased complement levels (C3 68, C4 16.8), and raised creatine kinase (619). A muscle biopsy confirmed myositis. The patient was treated with immunosuppressant (a combination of steroids and hydroxychloroquine) and supportive therapy. By the eighth day of hospitalization, her symptoms, especially thigh pain, resolved. Electromyocardiography was done, and the results were normal, indicating therapeutic success. This case highlights the importance of prompt diagnosis and management of myositis as a rare SLE manifestation to achieve favorable outcomes.
Systemic Lupus Erythematosus (SLE) ; Myositis ; Muscle Biopsy ; Electromyocardiography

Introduction: Hypothyroidism is the most common outcome following radioiodine (RAI) therapy for Graves’ disease, affecting up to 80% of patients, usually within 6 months. While symptoms are often nonspecific, musculoskeletal complaints may be the predominant or sole manifestation. Hypothyroid myopathy occurs in 30–80% of patients, typically causing myalgias, cramps, fatigue, and slowly progressive, symmetric proximal weakness with delayed reflex relaxation. We report an atypical case with subacute and evolving weakness after levothyroxine initiation. Case: A 43-year-old female with Graves’ disease underwent RAI therapy (25 mCi) and developed hypothyroidism 7 weeks later. She was started on levothyroxine 50 mcg daily. Two weeks into treatment, she presented with progressive proximal lower limb weakness (power 4/5), while distal strength and reflexes remained intact. Labs revealed elevated creatine kinase (259 U/L), hypokalemia (3.3 mmol/L), creatinine (57 µmol/L), and severe hypothyroidism (thyroid-stimulating hormone [TSH] 52.88 mIU/L, free thyroxine 4 [FT4] 7.79 pmol/L). Levothyroxine was increased to 100 mcg daily. Two weeks later, she developed proximal upper limb weakness (power 4/5), while lower limb strength had normalized. Nerve conduction studies and electromyography were unremarkable. Labs showed creatine kinase (244 U/L) and creatinine (58 µmol/L). As she remained hypothyroid (TSH 20.85 mIU/L, FT4 11.61 pmol/L), levothyroxine 100 mcg daily was continued. Her symptoms gradually improved alongside biochemical recovery (TSH 8.83 mIU/L, FT4 15.90 pmol/L) after 4 weeks, consistent with hypothyroid myopathy. Conclusion This case highlights an atypical subacute presentation of hypothyroid myopathy following RAI, with evolving weakness and transient worsening after starting thyroid hormone therapy. Although other serious causes should be excluded, clinicians must maintain a high index of suspicion to avoid unnecessary investigations and ensure timely optimization of thyroid hormone therapy, as clinical improvement parallels biochemical recovery.
Iodine Radioisotopes ; Muscular Diseases

Introduction: Muscle weakness in thyroid disease is commonly attributed to thyrotoxic myopathy or hypokalemic periodic paralysis. Nevertheless, autoimmune conditions such as idiopathic inflammatory myopathies (IIM) and myasthenia gravis (MG) should be considered, as they may coexist with Graves’ disease. Case: A 54-year-old female with hypertension and Graves’ disease, treated with carbimazole for 2 years, had her therapy discontinued after remission. She was restarted on low-dose carbimazole following symptom recurrence. Three weeks later, she developed progressive proximal weakness, dysphagia, hoarseness, anorexia, and weight loss. On examination, body mass index was 22 kg/m² with mild proptosis, symmetrical proximal weakness (MRC 4/5), and erythematous rashes on thighs and shins. Otorhinolaryngology evaluation confirmed bilateral vocal cord palsy. Investigations revealed markedly elevated creatine kinase (7,950 U/L), aspartate aminotransferase (349 U/L), and alanine aminotransferase (179 U/L), with euthyroid biochemistry (thyroid-stimulating hormone 5.21 mIU/L, free thyroxine 4 16.6 pmol/L). Hypokalemia correction failed to improve symptoms, excluding periodic paralysis. ANA, C3, and C4 were normal. Myositis panel showed strong anti-Cytosolic 5’-nucleotidase 1A positivity with borderline anti-Ro-52. A diagnosis of IIM with bulbar involvement was made. She was treated with intravenous methylprednisolone and intravenous immunoglobulin, with clinical improvement. Conclusion This case highlights the diagnostic challenge of muscle weakness in thyroid disease. While thyrotoxic myopathy is often presumed, markedly elevated creatinine kinase, rash, and bulbar involvement should prompt suspicion of IIM. Early immunosuppressive therapy is essential to achieve favorable outcomes.
Muscle Weakness ; Thyroid Diseases ; Muscular Diseases

OBJECTIVES: To study clinical manifestations and gene mutation features of neonates with centronuclear myopathy. METHODS: A retrospective analysis was conducted on the medical data of 5 neonates with centronuclear myopathy diagnosed in the Neonatal Intensive Care Unit of Children's Hospital, Zhejiang University School of Medicine from January 2020 to August 2024. The data included gender, gestational age, birth weight, Apgar score, clinical manifestations, creatine kinase level, electromyography, genetic testing results and the outcomes of the infants. RESULTS: All 5 male neonates had a history of postpartum asphyxia and resuscitation. They all presented with hypotonia, myasthenia, and respiratory failure; two neonates also had swallowing dysfunction. Of the five neonates, three had normal creatine kinase levels, while two had slightly elevated levels. Electromyography was performed for three neonates, among whom two had myogenic damage. MTM1 gene mutations were identified by genetic testing in all five neonates, including two nonsense mutations and three missense mutations, among which one variant had not been previously reported. Four mutations were inherited from the mother, and the other one was a de novo mutation. The five neonates showed no clinical improvement following treatment, failed weaning from mechanical ventilation, and ultimately died after withdrawal of life-sustaining therapy. CONCLUSIONS Centronuclear myopathy caused by MTM1 gene mutation often has a severe phenotype and a poor prognosis, and it should be considered for neonates with hypotonia and myasthenia after birth. Genetic testing should be performed as soon as possible.
Humans ; Myopathies, Structural, Congenital/genetics* ; Male ; Infant, Newborn ; Retrospective Studies ; Mutation ; Female ; Protein Tyrosine Phosphatases, Non-Receptor/genetics*

Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder characterized primarily by progressive degeneration and necrosis of skeletal muscle, resulting from mutations in the Dystrophin gene. Patients with DMD typically present with progressive muscle weakness and atrophy during childhood. Currently, available treatment options for DMD remain limited and their efficacy is suboptimal. This review aims to provide a systematic overview of recent advances in therapeutic strategies for DMD, including an analysis of the mechanisms underlying various treatment approaches, outcomes from clinical trials, and their potential clinical applications, in order to inform and guide clinical decision-making.
Muscular Dystrophy, Duchenne/genetics* ; Humans ; Genetic Therapy

OBJECTIVES: Uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is a progressive neurodegenerative disease associated with homozygous or compound heterozygous missense mutations in the GNE gene. This study aims to explore the impact of the homozygous p.V543M mutation in on cell phenotype and to gain preliminary insights into the underlying mechanisms. METHODS: Human embryonic kidney 293T (HEK 293T) cells were used to construct wild-type (WT-GNE) and mutant (MUT-GNE) GNE overexpression models. Western blotting and immunofluorescence were used to assess GNE protein expression levels and subcellular localization. Cell adhesion, proliferation, apoptosis, and mitochondrial membrane potential were evaluated using the cell counting kit-8 (CCK-8) assay, crystal violet staining, flow cytometry, Hoechst 33342/propidium iodide (PI) staining, and tetramethylrhodamine ethyl ester (TMRE) staining. Sialic acid synthesis levels and GNE enzymatic activity were measured, and the mRNA expression of sialic acid biosynthesis-related enzymes was quantified by real-time PCR. RESULTS: Western blotting confirmed successful establishment of GNE overexpression models. Immunofluorescence showed significantly reduced co-localization of GNE protein with Golgin-97 in the MUT-GNE group compared to WT-GNE (Pearson's correlation coefficient: 0.65±0.08 vs 0.83±0.06, P<0.05). Compared with WT-GNE, cells in the MUT-GNE group exhibited increased adhesion, decreased proliferation, and reduced mitochondrial membrane potential (P<0.05). No significant differences in apoptosis were observed between groups. The MUT-GNE group showed reduced sialic acid production, significantly decreased kinase activity, and downregulated transcription of sialic acid biosynthesis-related enzymes compared to WT-GNE (P<0.001). CONCLUSIONS The p.V543M mutation in the GNE gene alters cellular phenotype by reducing GNE enzymatic activity and the transcription of sialic acid biosynthesis enzymes, ultimately impairing sialic acid production.
Humans ; Mutation, Missense ; HEK293 Cells ; Apoptosis/genetics* ; Phenotype ; Multienzyme Complexes/metabolism* ; Cell Proliferation ; Homozygote ; Cell Adhesion/genetics* ; Distal Myopathies/genetics*

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital bilateral malformation of the large toe and progressive, extensive, and irreversible heterotopic ossification (HO) of soft tissues throughout the body, leading to severe disabilities. FOP is caused primarily by mutations in activin A receptor type 1 (ACVR1), also known as activin-like kinase 2 (ALK2), which encodes a receptor belonging to the bone morphogenetic protein (BMP) type I family. However, the continuous and complex process of HO in FOP is not yet fully understood, which has impeded the development of therapeutic drugs. Despite surgical removal of HO, which often results in recurrence and expansion of ossification, there is currently no definitive drug treatment available to completely prevent, halt, or reverse the progression of HO in FOP. Currently, researchers are intensively studying the pathogenesis of FOP at various stages and developing promising drug candidates, including saracatinib, palovarotene, and rapamycin. This review provides an overview of progress in understanding the mechanism of FOP and the development of therapeutic drugs, with the goal of providing insights for further research and the development of new treatment methods.
Myositis Ossificans/genetics* ; Humans ; Activin Receptors, Type I/genetics* ; Ossification, Heterotopic ; Mutation ; Sirolimus/therapeutic use* ; Quinolones/therapeutic use* ; Benzodioxoles/therapeutic use* ; Animals ; Quinazolines/therapeutic use*

OBJECTIVE: Acupuncture has demonstrated efficacy as a treatment for fibromyalgia; however, predictors of short- and long-term analgesic response in this population are not well understood. METHODS: This manuscript describes a secondary analysis of a single-center, blinded, sham-controlled, randomized longitudinal acupuncture clinical trial in fibromyalgia. Baseline characterization included pressure pain threshold and pain interference, while residualized change in pain intensity from baseline to follow-up served as the primary outcome measure. Participants were randomized into groups that received verum (n = 36) or sham (n = 29) acupuncture treatment over a 12-week period (18 treatments) and were followed for 37 weeks from the initiation of treatment. RESULTS: Lower pressure pain thresholds at baseline were associated with greater analgesia only in the sham treatment group immediately following treatment, while those with higher pressure pain thresholds had greater analgesia with verum treatment (B = -13.43, P = 0.001). Additionally, greater perceived impact of pain at baseline was predictive of greater short-term analgesia irrespective of treatment. Pressure pain threshold was not found to be predictive of long-term differential treatment response (B = -1.71, P = 0.66). There was a significant difference in the relationship between perceived impact of pain at baseline and subsequent long-term analgesia between groups where those with greater perceived impact of pain displayed improved long-term analgesia for verum acupuncture compared to the sham group (B = -11.37, P = 0.004). CONCLUSION Our results support the use of a self-reported pain outcome in predicting long-term analgesia following acupuncture in fibromyalgia. Please cite this article as: Murphy AE, Arewasikporn A, Taylor-Swanson L, Williams DA, Harris RE. Pressure pain threshold and perceived impact of pain differentially predict short-term and long-term pain reduction following acupuncture in fibromyalgia. J Integr Med. 2025; 23(2): 152-158.
Adult ; Female ; Humans ; Male ; Middle Aged ; Acupuncture Therapy ; Fibromyalgia/therapy* ; Pain Management/methods* ; Pain Measurement/statistics & numerical data* ; Pain Threshold/physiology* ; Pressure ; Treatment Outcome ; Longitudinal Studies

Duchenne muscular dystrophy (DMD) is an X-linked recessive myopathy caused by mutations in the dystrophin gene, which is divided into presymptomatic, early ambulatory, late ambulatory, early non-ambulatory, and late non-ambulatory stages according to its disease progression. Some patients experience non-progressive cognitive developmental delays in the presymptomatic stage. DMD patients gradually develop osteoporosis, cardiomyopathy, decreased respiratory function, delayed puberty, and gastrointestinal symptoms as the disease progresses. The required multidisciplinary management strategies vary across different disease stages. To standardize the multidisciplinary management of DMD, we established the DMD Guideline Writing Committee under the authorization of Chinese Medical Association Rare Disease Branch. Combined with the questions raised by patients in multiple consultations, neuromuscular experts drafted the DMD guidelines based on published clinical evidence, current practices, and expert recommendations. A consensus was reached on the best-practice recommendations for DMD management after extensive consultations with specialists from multiple relevant disciplines. The resulting recommendations have been endorsed by Chinese Medical Association Rare Disease Branch. This guideline provides practical and reasonable recommendations for all healthcare professionals and caregivers involved in DMD management, ensuring that patients can receive high-standard medical treatment and care across our country, which also serves as a reference for government staff involved in DMD management.
Humans ; Muscular Dystrophy, Duchenne/therapy* ; China

The SMPX (small muscle protein X-linked) gene encodes a small-molecular-weight protein that is mainly expressed in skeletal and cardiac muscles and is involved in cytoskeletal dynamics and mechanical stress responses. In recent years, missense variants of the SMPX gene have been identified as the cause of a novel X-linked distal myopathy (Distal myopathy 7). This article has systematically reviewed the molecular functions, variant types, and pathological mechanisms of the SMPX gene by integrating its clinical classification, molecular pathological evidence, and experimental model data, and revealed its pathgenetic mechanism through protein aggregation, dynamic dysregulation of stress granules, abnormal Rac1/p38 signaling pathways, and future research directions.
Humans ; Mutation ; Muscle Proteins/metabolism* ; Deafness/genetics* ; Animals ; Muscular Diseases/genetics* ; Genes, X-Linked