Jason is a three-year-old male who is brought to the office by his parents. They explain that Jason seems to be experiencing poor balance, and muscular weakness. Due to a positive family history of muscular dystrophy on his mother's side, they decided to seek a medical assistance "just in case." His mother reports that he seems to be "backsliding" in his motor development. The physical exam was
positive for Gowers' sign. Creatine kinase will be checked, but this is more of a formality than anything. Unfortunately, this child has Duchenne muscular dystrophy.
The parents were strongly urged to undergo genetic counseling prior to having anymore children since this is an X-liked genetic defect. Parents were counseled about the disease and it's unfortunate outcome. An appointment was scheduled for the parents to meet with the social worker who can put them in touch with various agencies that can provide assistance.
Treatment plan includes exercise, physical therapy, and respiratory therapy, as needed. The patient will be started on a course of corticosteroids. The patient will be seen again in one month.
Dx. Muscular dystrophy
First-listed diagnosis: ________
Fill in the blank with correct word.
Answer: Duchenne muscular dystrophy – G71.0
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