Lab Studies:
Labs were significant for elevated creatine phosphokinase (CPK) of 611 U/L and A1C of 11.8%. Right shoulder radiographs were consistent with normal right shoulder exam.
<br> <a href="CaseStudyImages/CS2CS1ShoulderGirdle-464.jpg" title="Case Photo #2" data-lity><b>Case Photo #2</b></a>
<br>Right shoulder MRI revealed significant atrophy of latissimus dorsi, teres major, and pectoralis major muscles.
<br> <a href="CaseStudyImages/CS3CS2CS1ShoulderGir-464.jpg" title="Case Photo #3" data-lity><b>Case Photo #3</b></a>
<br> Given the concern for a common origin of innervation of the involved musculature, a brachial plexus MRI was obtained showing findings inconsistent with brachial plexopathy.
<br> <a href="CaseStudyImages/CS4CS3CS2CS1Shoulder-464.jpg" title="Case Photo #4" data-lity><b>Case Photo #4</b></a>
<br>Subsequent electrodiagnostic studies were equivocal.
<br> <a href="CaseStudyImages/CS5CS4CS3CS2CS1Shoul-464.jpg" title="Case Photo #5" data-lity><b>Case Photo #5</b></a>
<br>On genetic testing, FSHD DNA molecular combing yielded an abnormal result consistent with contraction of the D4Z4 repeat array.
<br> <a href="CaseStudyImages/CS7CS6CS5CS4CS3CS2CS-464.jpg" title="Case Photo #7" data-lity><b>Case Photo #7</b></a>
Other Studies:
None
Consultations:
- 03Jun2014: New family medicine patient evaluation
<br>- 08Jul2014: MRI study
<br>- 07Oct2014: EMG/NCS
<br>- 23Jul2015: Neurology clinic visit, genetic testing
<br>- 14Dec2015: Neuromuscular clinic visit
<br>- 03Aug2016: Fetal Care and Genetics Center
<br> <a href="CaseStudyImages/CS8CS7CS6CS5CS4CS3CS-464.jpg" title="Case Photo #8" data-lity><b>Case Photo #8</b></a>
Click here to continue. Challenge yourself by writing down a revised, working diagnosis before moving to the next slide.