Characteristics of a cohort of boys with Duchenne and Becker muscular dystrophies - a study from a single neuromuscular centre
Abstract
Aim: Description of natural course and variety of complications in Duchenne (DMD) and Becker (BMD) muscular dystrophies in childhood. Patients and methods: Retrospective analysis of clinical and laboratory data with focus on muscular and extramuscular complications in 78 boys with dystrophinopathy (65 with DMD and 13 with BMD) followed up in our neuromuscular centre between 2004 and 2018.
Results: The incidence of secondary complications was negligible in boys with BMD. On the other hand, boys with DMD suffered from severe complications from their second decade of age.
Overall 43 (66%) of the boys with DMD were treated with glucocorticoids. Glucocorticoid-treated boys lost ability to walk on average 1.3 years later than glucocorticoid-naive boys (P < 0.001).
Moderate restrictive lung disease was diagnosed in 54% of boys with DMD older than 12 years of age, and loss of ability to walk was the most significant risk factor (P < 0.001). Decreased ejection fraction or myocardial fibrosis was found in 45% of boys older than 10 years of age.
Boys with DMD had short stature in 40%, the incidence of which increased with age (P < 0.0001). Osteoporosis was diagnosed in 22% of boys with DMD, more often in the glucocorticoid-treated group than in glucocorticoid-naive group (P = 0.024).
Transient proteinuria was described in 48% of boys with DMD. Psychological aberrations were described in 68% of boys with DMD.
Conclusion: This study describes the most extensive cohort of pediatric patients with dystrophinopathy in the Czech Republic and highlights the need of multidisciplinary care.