Shoulder Girdle Weakness In 35 Year Old Male - Page #3
 

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.


NOTE: For more information, please contact the AMSSM, 4000 W. 114th Street, Suite 100, Leawood, KS 66211 (913) 327-1415.
 

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Phone: 913.327.1415


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