Growth patterns in duchenne muscular dystrophy

Abstract

Introduction. Duchenne muscular dystrophy (DMD) is a severe genetic disorder that is notable for its significant impact on growth patterns, presenting unique challenges in clinical management and treatment. Aim. To evaluate longitudinal growth patterns (height, weight, and BMI) in children with genetically confirmed DMD compared to healthy, age- and sex-matched controls. Material and methods. The study included 100 children: 50 patients with genetically confirmed DMD and 50 healthy controls matched by age and sex. Anthropometric data (height, weight, and BMI) were collected at three follow-up visits over 12 months and analyzed with Office365 Excel and StatTech v.4.6.3. Results. Children with DMD exhibited significantly impaired growth compared to healthy controls. At baseline, the median height in the DMD group was 1.25 m (Q₁–Q₃: 1.10–1.44 m), significantly lower than in controls (1.56 m; Q₁–Q₃: 1.37–1.68 m; p < 0.001). The mean height z-score was −0.95 ± 1.57 in DMD patients versus 0.42 ± 1.41 in controls (p < 0.001), and the median height percentile was also markedly reduced (16.0 vs. 63.7; p < 0.001). Body weight was lower in the DMD group (median 27.7 kg; Q₁–Q₃: 18.5–34.0) compared to controls (46.0 kg; Q₁–Q₃: 29.3–58.0; p < 0.001), with a significantly lower weight z-score (median −0.61 vs. 0.57; p = 0.003) and weight percentile (26.9 vs. 71.6; p = 0.003). BMI was also reduced in DMD patients (median 15.9 kg/m² vs. 18.4 kg/m² in controls; p = 0.007), although BMI z-scores and percentiles did not show statistically significant differences (p > 0.05). Growth velocity decreased over time, with a median height increase of 0.03 m between Visits 1–2 and only 0.01 m between Visits 2–3 (p < 0.01). The most pronounced anthropometric gains were observed in patients treated with deflazacort for >12 months, although between-group differences were not statistically significant for height (p = 0.824), weight (p = 0.831), or BMI (p = 0.762). Conclusions. Children with DMD show delayed growth compared to peers, with significant differences in height, weight, and BMI. Growth slows over time, especially after the second visit. Regular auxological monitoring is essential, and further research is needed to clarify corticosteroid effects on growth.