Bone health in Duchenne muscular dystrophy: clinical and biochemical correlates

J Endocrinol Invest. 2022 Mar;45(3):517-525. doi: 10.1007/s40618-021-01676-4. Epub 2021 Sep 15.


Purpose: An increased fracture risk is commonly reported in Duchenne muscular dystrophy (DMD). Our aim was to investigate bone mineral density (BMD) and bone turnover, including sclerostin, and their association with markers of cardiac and respiratory performance in a cohort of DMD subjects.

Methods: In this single center, cross sectional observational study, lumbar spine (LS) BMD Z-scores, C-terminal telopeptide of procollagen type I (CTX) and osteocalcin (BGP), as bone resorption and formation markers, respectively, and sclerostin were assessed. Left ventricular ejection fraction (LVEF) and forced vital capacity (FVC) were evaluated. Clinical prevalent fractures were also recorded.

Results: Thirty-one patients [median age = 14 (12-21.5) years] were studied. Ambulant subjects had higher LS BMD Z-scores compared with non-ambulant ones and subjects with prevalent clinical fractures [n = 9 (29%)] showed lower LS BMD Z-scores compared with subjects without fractures. LS BMD Z-scores were positively correlated with FVC (r = 0.50; p = 0.01), but not with glucocorticoid use, and FVC was positively associated with BGP (r = 0.55; p = 0.02). In non-ambulant subjects, LS BMD Z-scores were associated with BMI (r = 0.54; p = 0.02) and sclerostin was associated with age (r = 0.44; p = 0.05). Age, BMI, FVC and sclerostin were independently associated with LS BMD Z-score in a stepwise multiple regression analysis. Older age, lower BMI, FVC and sclerostin were associated with lower LS BMD Z-scores.

Conclusion: In a cohort of DMD patients, our data confirm low LS BMD Z-scores, mainly in non-ambulant subjects and irrespective of the glucocorticoid use, and suggest that FVC and sclerostin are independently associated with LS BMD Z-scores.

Keywords: Bone mineral density; Bone turnover; Duchenne muscular dystrophy; Forced vital capacity; Fractures; Glucocorticoid; Left ventricular ejection fraction; Sclerostin.

Publication types

  • Observational Study

MeSH terms

  • Adaptor Proteins, Signal Transducing / metabolism*
  • Adolescent
  • Biomarkers / metabolism
  • Bone Density
  • Bone Remodeling
  • Collagen Type I / metabolism*
  • Fractures, Bone* / epidemiology
  • Fractures, Bone* / etiology
  • Fractures, Bone* / prevention & control
  • Glucocorticoids / therapeutic use*
  • Humans
  • Italy / epidemiology
  • Lumbar Vertebrae / diagnostic imaging
  • Lumbar Vertebrae / pathology
  • Mobility Limitation
  • Muscular Dystrophy, Duchenne* / diagnosis
  • Muscular Dystrophy, Duchenne* / drug therapy
  • Muscular Dystrophy, Duchenne* / metabolism
  • Muscular Dystrophy, Duchenne* / physiopathology
  • Peptides / metabolism*
  • Stroke Volume
  • Ventricular Dysfunction, Left* / diagnosis
  • Ventricular Dysfunction, Left* / etiology
  • Vital Capacity


  • Adaptor Proteins, Signal Transducing
  • Biomarkers
  • Collagen Type I
  • Glucocorticoids
  • Peptides
  • SOST protein, human
  • collagen type I trimeric cross-linked peptide