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14 yr old boy - zarah - Printable Version

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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