Parents of a 3-year-old boy noticed that their son was walking "on his 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 his 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, he was confined to a wheelchair. Contractures appeared, first in the feet, as the gastrocnemius muscles tightened.
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