Case #2 A four-and-a-half year old boy is brought into your office by a very con

Question

Case #2 A four-and-a-half year old boy is brought into your office by a very concerned mother. She states that her son began walking at around eighteen months of age. Within the past three months, the mother noticed that her son has decreased in his ambulation and he is constantly rubbing his calves and complaining of soreness around the thigh and calf regions. She noticed that he has difficulty climbing the stairs and has watched him crawl up the stairs. She has two other sons, six and eight years of age, and both are healthy and active in sports and physical activities. Physical exam was significant for gait abnormality, wide-base walking, toe walking, and a positive Gowers' sign.

Explanation / Answer

In the given case scenario, the patient is suffering from Duchenne muscular dystrophy. The symptoms of this disease are muscle weaknesses. This condition generally begins at an age of four years for boys and begins to deteriorate very quickly. This is the condition that is an X linked disease which is recessive and may be inherited from one of the parents. Only in 33.3% of the cases this is caused by mutations.

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