The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

The Effect of Galvanic Vestibular Stimulation in the Rehabilitation of Patients with Vestibular Disorders

Introduction: The aim of the study was to increase the participants' satisfaction with the unilateral peripheral vestibular pathology, in addition to the exercise program, with galvanic vestibular stimulation (GVS). Methods: Participants were divided into 2 groups: study group (41 subjects) and control group (32 subjects). Participants who underwent videonystagmography and sensory organization testing, which were objective test methods at the beginning, were invited to check in every week for 6 weeks to perform GVS and/or exercise in the exercise program. Objective tests were repeated at the end of the sixth week. A visual analog scale (VAS) was administered every week. Results: Unilateral weakness, balance scores 4, 5, 6; visual, vestibular, preference and strategy scores 5, 6; center of gravity 1, 2, 3, 4, 5, 6; composite scores were different between the groups after rehabilitation (p < 0.05). In terms of VAS, the study group began to feel better at the end of the first week than the control group (p < 0.01). Discussion/Conclusion: It was found that the study group benefited both from an objective and a subjective point of view more than participants in the control group