Parents of a 3-year-old noticed that their daughter was walking "on her toes," had a waddling gait, fell frequently and had difficulty getting up again, and was not able to run because of the difficulty in raising her knees. At age five, there was progressive muscular weakness and muscle wasting. Weakness of the trunk muscles led to increased lordosis and a protuberant abdomen. At age nine, she was confined to a wheelchair. Contractures appeared, first in the feet, as the gastrocnemius muscles tightened.