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.
Case Photo #2
Right shoulder MRI revealed significant atrophy of latissimus dorsi, teres major, and pectoralis major muscles.
Case Photo #3
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.
Case Photo #4
Subsequent electrodiagnostic studies were equivocal.
Case Photo #5
On genetic testing, FSHD DNA molecular combing yielded an abnormal result consistent with contraction of the D4Z4 repeat array.
Case Photo #7
Other Studies:
None
Consultations:
- 03Jun2014: New family medicine patient evaluation
- 08Jul2014: MRI study
- 07Oct2014: EMG/NCS
- 23Jul2015: Neurology clinic visit, genetic testing
- 14Dec2015: Neuromuscular clinic visit
- 03Aug2016: Fetal Care and Genetics Center
Case Photo #8
Click here to continue. Challenge yourself by writing down a revised, working diagnosis before moving to the next slide.