G.P.12.10 Delayed development and learning difficulties as a predominant symptom in female carriers of Duchenne and Becker muscular dystrophy

Abstract

Duchenne and Becker muscular dystrophy (DMD/BMD) generally affect only males. Clinical signs of the condition have been reported in about 8% of female carriers, who may show slowly progressing motor disturbances such as delayed motor development, weakness, muscle pain, calf hypertrophy, and dilated cardiomyopathy. Cognitive and behavioural impairment occur in about one third of DMD/BMD patients but have not been reported so far as a typical feature in carriers. In this study we describe the phenotype of 5 DMD and 1 BMD carriers with a mean age of 13.83 years (age range: 7–20) who presented with motor and speech delay and learning difficulties.