Short stature in Duchenne muscular dystrophy: a study of 34 patients.
In Duchenne muscular dystrophy (DMD), short stature is a feature of unknown cause. This cross-sectional study of 34 male patients (mean age 8.0 y, age range 1.2-13.7 y) was conducted to examine the relationship between auxological parameters, markers of growth and the extent of muscular weakness. Weight and length at birth (SDS +/- SD; 0.0 +/- 1.2; 0.2 +/- 1.5) and target height SDS (-0.2 +/- 0.7) were normal. Height (HT) SDS (-1.0 +/- 1.1) was lower than the normal population (p < 0.001) and did not correlate with age. Body mass index SDS (-0.1 +/- 1.6) was normal. Tests of insulin-like growth factor-I SDS (-0.6 +/- 1.2) and insulin-like growth factor binding protein-3 SDS (0.1 +/- 1.3) ruled out a severe derangement in the GH-IGF-axis. The carboxy-terminal propeptide of type I procollagen (PICP) SDS (0.6 +/- 1.5) was normal, but bone-specific alkaline phosphatase (BAP) SDS (-1.7 +/- 0.8) was low (p <0.001). HT SDS did not correlate with BAP SDS. The Vignos scale, a grading of muscular function (score: 0 = unaffected; 11 = confined to bed) (median (range): 3 (0-9)) correlated strongly with age (r = 0.77, p < 0.0001), but did not correlate with HT SDS, PICP SDS or BAP SDS. In conclusion, DMD patients are significantly shorter than the normal population, though the HT SDS does not change with age. Growth hormone deficiency does not seem to be the cause of short stature in DMD. Significantly low BAP levels are probably the result of the reduced muscle mass, which leads to a lower biomechanical load on the bone and thus a reduction in bone turnover. The short stature observed in our study is unlikely to be the result of muscular weakness.
Nagel
B H
BH
Department of Paediatrics, University Children's Hospital, Essen, Germany.
Mortier
W
W
Elmlinger
M
M
Wollmann
H A
HA
Schmitt
K
K
Ranke
M B
MB
D000293:Adolescent; D000469:Alkaline Phosphatase / Q000032:analysis; D015415:Biomarkers / Q000032:analysis; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D006801:Humans; D007223:Infant; D007334:Insulin-Like Growth Factor I / Q000032:analysis; D008297:Male; D009136:Muscular Dystrophies / Q000503:physiopathology*
D015415:Biomarkers; D007334:Insulin-Like Growth Factor I; D000469:Alkaline Phosphatase