leptin and Muscular-Atrophy--Spinal

It has been reported that in patients with spinal muscular atrophy (SMA), lower levels of motor function are associated with hyperleptinemia. Additionally, hyperleptinemia has been found to be more frequent in underweight SMA patients. Therefore, we aimed to analyze serum leptin levels in patients with SMA.. This was a cross-sectional study of pediatric patients (2-19 years old) with SMA types 2 and 3. The investigations included anthropometric measurements, assessment of pubertal status, motor function evaluation using the Hammersmith Functional Motor Scale - Expanded (HFMSE), and serum leptin levels.. In total, 37 patients (22 with type 2 and 15 with type 3 SMA) were included in the study. The male-to-female ratio was 1:1.3 and 62.2% of patients were prepubertal. No statistically significant correlation was found between the HFMSE score and leptin levels, r. Serum leptin levels do not seem to be a useful marker of disease severity in children and adolescents with types 2 and 3 SMA. As in the general pediatric population, leptin levels are strongly correlated with BMI, which is a surrogate measure of body fat.

Topics: Adolescent; Adult; Child; Child, Preschool; Cross-Sectional Studies; Female; Humans; Leptin; Male; Muscular Atrophy, Spinal; Severity of Illness Index; Spinal Muscular Atrophies of Childhood; Young Adult

To evaluate the potential bone defect in neuromuscular diseases, we conducted a longitudinal study including three groups of patients: 14 Duchenne muscular dystrophies (DMD) and 2 limb-girdle muscular dystrophies (LGMD); 3 Becker muscular dystrophies (BeMD) and 7 spinal muscular atrophies (SMA). Yearly osteodensitometries assessed body composition and bone mineral density (BMD) associated with bone markers and leptin. Along the 7-year study, 107 osteodensitometries showed that bone status evolved to osteopenia in most patients except BeMD. When analyzing the crude values, BMD improved with age in BeMD and SMA but not in DMD/LGMD. The correlation using the Z-scores displayed a decrease in BMD with age in DMD/LGMD for all regions, in SMA at total body less head, whereas BMD increased in BeMD at lumbar spine. As observed in healthy persons, muscular mass and bone tissue were significantly correlated. Glucocorticoids were deleterious on trabecular and cortical bone. Leptin was high in most patients and correlated to fat mass and bone parameters. This study confirms a secondary bone defect in neuromuscular diseases, further confirming the functional relationship between bone and muscle and arguing for regular bone follow-up in patients to prevent fracture risk. Adipose tissue seems to interfere with bone remodeling in neuromuscular diseases.

Topics: Absorptiometry, Photon; Adolescent; Adult; Bone Density; Bone Diseases, Metabolic; Child; Child, Preschool; Female; Humans; Leptin; Longitudinal Studies; Male; Muscular Atrophy, Spinal; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Duchenne; Young Adult