Late-onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to progressive limb-girdle weakness and respiratory impairment. The insidious onset of non-specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high-risk screening criteria for LOPD in the Chinese population. A total of 726 patients were included, including 96 patients under 14 years of age. Dried blood spots (DBS) and tandem mass spectrometry (MS/MS) were employed to evaluate serum GAA activity. Forty-four patients exhibited a decreased GAA activity, 16 (2.2%) of which were confirmed as LOPD by genetic testing. Three previously unreported GAA mutations were also identified. The median diagnostic delay was shortened to 3 years, which excelled the previous retrospective studies. At diagnosis, most patients exhibited impaired respiratory function and/or limb-girdle weakness. Elevated serum creatine kinase (CK) levels were more frequently observed in patients who manifested before age 16. Overall, high-risk screening is a feasible and efficient method to identify LOPD patients at an early stage. Patients over 1 year of age with either weakness in axial and/or proximal limb muscles, or unexplained respiratory distress shall be subject to GAA enzymatic test, while CK levels above 2 times the upper normal limit shall be an additional criterion for patients under 16. This modified high-risk screening criteria for LOPD requires further validation in larger Chinese cohorts.

BACKGROUND: This study evaluates the potential of inflammatory biomarkers, especially the neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR), for early detection of hyperCKemia after seizures. Addressing the challenge of delayed hyperCKemia diagnosis, which can escalate to rhabdomyolysis, this research emphasizes the use of these accessible biomarkers.
METHODS: Conducted retrospectively, data from October 1, 2022, and October 1, 2023, were extracted from electronic medical records. Following univariate analysis (P-value < 0.05 for selection), Spearman\'s rank correlation and binary logistics regression were employed to examine the relationship between hyperCKemia and various clinical variables. Receiver operating characteristic curves (ROCs) defined the cut-off values for seizure-related hyperCKemia.
RESULTS: Among 98 seizure patients, 31 (31.63 %) developed hyperCKemia. Notable differences in leukocytes, neutrophils, CRP, and NLR levels were observed between hyperCKemia and normal CK groups (P < 0.05). Leukocytes, NLR, and CRP correlated with hyperCKemia, exhibiting odds ratios of 1.24 (95 % CI: 1.11-1.39, P < 0.001), 1.03 (95 % CI: 1.01-1.05, P = 0.001), and 1.22 (95 % CI: 1.09-1.35, P = 0.017). The optimal cut-off values were established as 9.78 × 10^9/L for leukocytes, 32.40 mg/L for CRP, and 7.35 for NLR.
CONCLUSIONS: Elevated levels of leukocytes, CRP, and NLR post-seizure are strong indicators of hyperCKemia risk, with significant implications for enhancing clinical decision-making and patient care strategies.

Neutral lipid-storage disease with myopathy (NLSDM) is an autosomal recessive neuromuscular disorder caused by mutations in PNPLA2, and the average age at onset is 30 years. To date, only eight patients with childhood-onset NLSDM have been reported in detail. We investigated 3 unreported patients with NLSDM detected in childhood and reviewed 8 childhood-onset and 82 adult-onset patients with NLSDM documented in the literature. In the childhood-onset cohort, NLSDM presented initially as asymptomatic or paucisymptomatic hyperCKemia in 6/11 patients, and follow-up data showed onset of muscle weakness in 6/11 childhood-onset patients. In the adult-onset cohort, 95.1% (78/82) of patients showed muscle weakness. Cardiac involvement developed in 6/11 childhood-onset patients. Hepatomegaly was observed in 3/11 childhood-onset patients. Serum creatine kinase levels were elevated greater than five-fold of the upper limit of normal (ULN) in most childhood-onset patients and were elevated to less than ten-fold of the ULN in most adult-onset patients. Peripheral blood smears and muscle biopsies showed cytoplasmic lipid droplets in leukocytes and myocytes. NLSDM can present in children with asymptomatic or paucisymptomatic hyperCKemia before the onset of muscle weakness. The presence of lipid droplets in leucocytes (Jordans\' anomaly) aids in diagnosing and confirming the pathogenicity of PNPLA2 variants of uncertain significance. There were no clear genotype-phenotype correlations in patients with NLSDM.

Motor signs accompanying seizures have been considered to result in overexertion of muscles and have the ability to cause elevated levels of serum creatine kinase (CK). There were no previous studies on the treatment of seizure-induced elevated CK. We summarized the characteristics and treatments of six patients with significant elevation of CK after seizure onset. There were four males and two females, the age range was 16-68 years. The CK levels were greater than 5000 U/L in five of the six patients and the highest CK level was 39,300 U/L. All patients exhibited an estimated glomerular filtration rate (eGFR) < 90 mL/min/1.73m2. No patient developed renal failure or required continuous renal replacement therapy. We determined that serial assessment of CK, myoglobin, eGFR, and electrolytes should be performed in patients following seizures. Furthermore, fluid resuscitation, urine alkalization, and diuretic agents should be administrated when CK are significantly elevated after seizure onset. Serial assessment of CK levels after seizures should be performed, especially when the patient experiences electrolyte disorders. Fluid resuscitation, urine alkalization, and diuretic agents also should be administrated to patients when they exhibit a significantly elevated CK or myoglobin after seizures.

The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with TRNT1 is autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fever, and developmental delay (SIFD). Muscle involvement has rarely been reported in TRNT1-related disorders. Here we report a Chinese patient with incomplete SIFD and hyperCKemia, and explored the skeletal muscle pathological changes. The patient was a 3-year-old boy with sensorineural hearing loss, sideroblastic anemia, and developmental delay since infancy. At the age of 11 months, significantly increased levels of creatine kinase were noted, accompanied by mild muscle weakness. Whole-exome sequencing revealed compound heterozygous variants of the TRNT1 gene, c.443C > T (p.Ala148Val) and c.692C > G (p.Ala231Gly), in the patient. Western blot showed a decreased expression of TRNT1 and cytochrome c oxidase subunit IV (COX IV) in the skeletal muscle of the patient. Electron microscopy observation of skeletal muscle pathology revealed abnormal mitochondria of various sizes and shapes, supporting a diagnosis of mitochondrial myopathy. The present case indicates that in addition to the classic SIFD phenotype, TRNT1 mutations can cause mitochondrial myopathy, a rare clinical phenotype of TRNT1-related disorders.

The aim of the present case study was to identify the genetic cause of a patient with a clinical presentation of tubular aggregate myopathy (TAM)/Stormorken syndrome (STRMK) and review the published clinical data of patients with TAM/STRMK. A child with thrombocytopenia and hyperCKemia at the Children\'s Hospital of Soochow University were recruited in the study. Peripheral blood samples of the infant and her parents were collected, and then whole-exome sequencing was performed. Detection of the stromal interaction molecule 1 (STIM1) level of the child was performed using western blot analysis. In addition, a literature review was performed based on a thorough retrieval of published literature from the PubMed database, as well as domestic databases. In the present study, the c.326A>G mutation in a STIM1 allele (p.H109R) was identified only in the child, as opposed to the unaffected parents. The level of STIM1 was not decreased in the child. Among the mutation sites identified in previous studies, there were 46 cases across 30 families of STIM1 EF-hand mutations, 21 cases across 14 families of STIM1 CC1 mutations and 20 cases across 8 families of calcium release-activated calcium channel protein 1 mutations, in which 7 parents had the same mutation site as the patient described herein. On the whole, it is demonstrated that TAM/STRMK is an extremely rare disease with autosomal dominant inheritance. Patients often have multisystemic signs. Gene detection at an early stage is helpful for diagnosis. Long-term exercise training may also have a certain curative effect.

UNASSIGNED: To evaluate the independent risk factors for elevated creatine kinase (hyperCKemia) after seizures.
UNASSIGNED: Data included in this retrospective study were obtained from two hospitals from July 1, 2017, to March 31, 2022. Clinical and laboratory data were acquired from the emergency department or within 24 h after patient admission. Variables that exhibited statistical differences (P < 0.05) were selected for further analysis. Associations between body temperature (BT), leukocyte count (LEU), percentage of neutrophils (NEU), and C-reactive protein (CRP) and creatine kinase (CK) levels were assessed using binary logistic regression analysis.
UNASSIGNED: One hundred twenty-three patients who exhibited seizures were included in the study, and 39 (31.7%) patients exhibited hyperCKemia based on a CK level that was >1.5 times the upper limit of the normal range for CK. No statistical differences were observed among the patient characteristics, seizure-related parameters, or electrolyte levels. However, BT, LEU, NEU, and CRP were elevated in patients with hyperCKemia compared to patients with normal CK levels. Specifically, a BT ≥ 37.5 °C (fever) and LEU >9.5×109/L (elevated LEU) exhibited positive correlations with hyperCKemia, and presented an adjusted OR of 8.87 (95% CI: 2.11-37.24, P = 0.003) and 3.01 (95% CI: 1.12-8.05, P = 0.029), respectively.
UNASSIGNED: In this study, hyperCKemia occurred in 31.7% of patients after seizures. Fever and elevated LEU were independent risk factors for seizure-related hyperCKemia. Earlier recognition of risks for seizure-related hyperCKemia would be beneficial in taking prophylactic measures.

BACKGROUND: Acupuncture therapy has been widely used as an alternative therapy to treat multiple diseases, such as sequelae of stroke, pain, facial paralysis and so on. In recent years, few adverse events related to acupuncture treatment have been reported, among which hematoma, bleeding and dizziness are the main manifestations. However, to date, there have been no existing cases reported the association between acupuncture therapy and asymptomatic/pauci-symptomatic hyperCKemia.
METHODS: We report a patient who developed hyperCKemia during 5 sessions of acupuncture at different frequencies. After stopping acupuncture treatment for 1 month, follow-up showed a significant downward trend in serum creatine kinase (sCK). However, after that this patient started to get acupuncture treatment again in order to improve the sequelae of stroke. Meantime, the sCK rose again.
CONCLUSIONS: HyperCKemia may associated with acupuncture therapy. All kinds of adverse events of acupuncture should be recorded comprehensively and objectively so as to improve the safety standard system of acupuncture therapy.

To investigate the incidence of hyperCKemia in patients with neuromyelitis optica spectrum disorders (NMOSD) and to document the clinical characteristics of these patients.
Records from 439 NMOSD patients were retrospectively reviewed. Records of patients with hyperCKemia were analyzed.
Nineteen patients with seropositive aquaporin (AQP)-4 antibodies had elevated CK levels in the acute phase of the disease. The magnetic resonance imaging (MRI) findings presented as myositis changes. All CK levels were reduced to the normal range after methylprednisolone treatment.
Transient hyperCKemia might be a feature of NMOSD patients in the acute phase, more attention is recommended.

Rhabdomyolysis could be caused by various mechanisms including autoimmune reaction. Here, we reported a case of 76-year-old-woman diagnosed with aquaporin-4 (AQP4) IgG positive neuromyelitis optica spectrum disorder (NMOSD) following rhabdomyolysis. After a review of literature, we propose that physical injury of skeletal muscle cells may lead to the production of AQP4 IgG and this AQP4 IgG might further decrease in the stability of skeletal muscle cells creating a positive feedback loop. HyperCKemia might be an inducement of NMOSD.