Parents of a 3-year-old boy noticed that their son was walking \"on his toes,\"

Question

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.

1. This hereditary X-linked recessive disease characterized by progressive muscular weakness is .

2. What does dystrophy mean? Why is this term used to describe this case?

3. What muscles would be involved in walking "on the toes"? Which muscles are "weakening"?

Explanation / Answer

Hello there. 1)The disease is Muscular Dystrophy. 2)Dystrophin protein is found in muscle fibre membrane, acting like a spring. It joins the membrane actin filaments. So in muscular dystrophy dystrophin action is interrupted and it is degenerative. 3)As there are more joints present in legs and trunk the muscles in the joints are affected.So there will be problem in walking,bending etc.

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