14 yr old boy - zarah - Printable Version +- USMLE Forum - Largest USMLE Community (https://www.usmleforum.com) +-- Forum: USMLE Forum (https://www.usmleforum.com/forumdisplay.php?fid=1) +--- Forum: Step 1 (https://www.usmleforum.com/forumdisplay.php?fid=2) +--- Thread: 14 yr old boy - zarah (/showthread.php?tid=111901) Pages:
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14 yr old boy - zarah - ArchivalUser - 08-24-2006 A 14-year-old male is seen by his pediatrician because he has recently been having problems with walking - he is becoming clumsy and having difficulties climbing. Upon examination, the physician notes that his calf muscles are hypertrophic. A DNA test is ordered, and a deletion is found in a gene on the X chromosome. What is the most probable diagnosis for this child? A Becker muscular dystrophy B Duchenne muscular dystrophy C Limb-girdle muscular dystrophy D Myasthenia gravis E Spinal muscular atrophy 0 - ArchivalUser - 08-24-2006 b. 0 - ArchivalUser - 08-24-2006 I think it is A (late onset and mild) 0 - ArchivalUser - 08-24-2006 i was thinking that also, but it said deletion, not mutation 0 - ArchivalUser - 08-24-2006 agree with unocutie for b duchenne = no dystrophin while in beckers we see just a bit 0 - ArchivalUser - 08-24-2006 B. 0 - ArchivalUser - 08-24-2006 guys...the answer is a........check out the age...14 yrs...tooo old for duchenne...in duchenne,symptoms appear by 5 yrs......you are right that in duchenne there is complete absence of dystrophin..... 0 - ArchivalUser - 08-24-2006 i see the age, but i just went with the deletion 0 - ArchivalUser - 08-24-2006 There is deletion in dystrophin gene in both... 0 - ArchivalUser - 08-24-2006 becker is a mutation |