Neuropediatrics 2012; 43 - PS18_01
DOI: 10.1055/s-0032-1307138

Growth and psychomotor development of patients with Duchenne Muscular Dystrophy

E Sarrazin 1, M von der Hagen 2, U Schara 3, K von Au 4, A Kaindl 4
  • 1Klinik für Pädiatrie m.S. Neurologie, Charité Berlin, Institut für Zell- und Neurobiologie, Berlin, Germany
  • 2Abt. f. Neuropädiatrie, Universitätskinderklinik TU Dresden, Dresden, Germany
  • 3Abt. f. Neuropädiatrie, Universitätskinderklinik Essen, Essen, Germany
  • 4Klinik für Pädiatrie m.S. Neurologie, Charité Berlin, Institut für Zell- und Neurobiologie, Sozialpädiatrisches Zentrum, Charité Berlin, Berlin, Germany

Aims: Duchenne muscular dystrophy (DMD, MIM#310200) is a hereditary degenerative neuromuscular disease. The aim of the study was to describe growth and psychomotor development of patients with DMD and to detect a possible genotype-phenotype correlation.

Methods: In a retrospective data analysis, the body measurements (length, body mass index BMI, head circumference) of 274 DMD patients from the Departments of Neuropediatrics at the University Hospitals in Essen, Berlin and Dresden were compared with standardised percentile curves. The age at walking and the type of school were used as a measure for groß motor development and cognitive functioning, respectively. All parameters were analyzed for distribution within the entire patient group and divided by genotypes (site of mutation).

Results: Overall 30% of the patients have short statue (length < P3) already early in development, and this is even more prevalent when steroid therapy is applied (50% of patients >6 years versus 21% steroid-free patients). The BMI shows a rightwards shift (70% > P50), the head circumference a leftwards shift (65% < P50, 5% microcephaly). Gross motor development is delayed (mean age at walking 18.3 months, 30% >18 months, 8% >24 months). Only about half of the patients have normal cognitive functioning; 26% have a learning disability, 17% have mental retardation. The majority of mutations count for large intragenic deletions (69%). Both mutation hotspots that are described in literature could be identified in our cohort. A correlation between genotype and phenotype could be found: for mutations upstream exon 63 which affect all isoforms of dystrophin development of short stature was more prevalent; patients were more severely affected in motor and cognitive development (15/18 patients with mental retardation).

Conclusion: DMD is associated with short stature in almost one third of the patients. Distal mutations with loss of all isoforms can be used as a prognostic factor for phenotype.

Duchenne Muscular Dystrophy - DMD - growth - psychomotor development - cognition - short stature - genotype