USMLE Forum Archives - USMLE Step 3 - Becker muscular dystrophy (BMD)
Becker muscular dystrophy (BMD)
meduploader - 06-28-09 16:14
A 24-year-old man with a history of increasing muscle cramps, myalgias, and calf muscle hypertrophy
was recently diagnosed with Becker muscular dystrophy (BMD) through muscle biopsy. The lab report
of the patient's leukocyte DNA analysis, however, states, "no mutation known to be associated with BMD
found." On further questioning, you discover that the patient has a reportedly healthy 2-year-old daughter;
a 16-year-old maternal cousin who recently began suffering from muscle cramps similar to those of
the patient; a sister in her teens who is reportedly healthy; a mother with a "big heart"; and a maternal
grandfather who died of an unspecified heart problem 20 years ago. You suggest further genetic linkage
analysis and counseling for this patient and his extended family.
Which of the following facts would serve as the basis of your recommendation?
meduploader - 06-28-09 16:14
A 24-year-old man with a history of increasing muscle cramps, myalgias, and calf muscle hypertrophy
was recently diagnosed with Becker muscular dystrophy (BMD) through muscle biopsy. The lab report
of the patient's leukocyte DNA analysis, however, states, "no mutation known to be associated with BMD
found." On further questioning, you discover that the patient has a reportedly healthy 2-year-old daughter;
a 16-year-old maternal cousin who recently began suffering from muscle cramps similar to those of
the patient; a sister in her teens who is reportedly healthy; a mother with a "big heart"; and a maternal
grandfather who died of an unspecified heart problem 20 years ago. You suggest further genetic linkage
analysis and counseling for this patient and his extended family.
Which of the following facts would serve as the basis of your recommendation?
The correct answer and explanation will be available after you answer.
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#7
Re: Becker muscular dystrophy (BMD)
meduploader - 06-29-09 15:51 My answer is: b.
This patient's offspring and other relatives are at risk for BMD, and a genetic linkage analysis would help define their genotypic risk status
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