ABSTRACT

Skeletal dysplasias consist of a large group of different, rare skeletal disorders, which often express themselves in disproportionate short stature. Classification is not always possible (Savarirayan andRimoin, 2002). The disturbed growth related to achondroplasia may influence functional ability and exercise capacity. Little research has been performed concerning the functional ability of achondroplastic dwarfs. Exercise intolerance and exercise induced fatigue is an often heard complaint in children with achondroplasia. The most commonly found and wellknown skeletal dysplasia is achondroplasia with an incidence of 1 in 25,000 to 40,000 births (Savarirayan and Rimoin, 2002). This type of dwarfism is characterized by rhizomelic shortening of the limbs in combinationwith an almost normal trunk length. Little research has been performed concerning the exercise response in subjects with achondroplasia. The aims of the present study were to determine whether subjects with achondroplasia have a different response to exercise and gas exchange compared to reference values of healthy peers, and whether V˙O2peak might be associated with anthropometric measurements or daily physical activity levels.