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Abstract Details

Anti-signal recognition particle (Anti-SRP) autoantibody myopathy presenting with profound scapular winging and lumbar lordosis: an uncommon presentation
Neuromuscular and Clinical Neurophysiology (EMG)
Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)
114
To illustrate a rare presentation of immune-mediated necrotizing myopathy (IMNM) with profound scapular winging and severe lumbar lordosis, mimicking facioscapulohumeral dystrophy (FSHD).
Anti-signal recognition particle (anti-SRP), one of the two main autoantibodies identified in IMNM, has been characterized as an aggressive disease, associated with severe muscle weakness, dysphagia, and markedly elevated creatine kinase (CK). FSHD phenotypic presentation of it has rarely been described.  
NA
A 28-year-old woman with subacute onset of progressive proximal weakness starting in January 2017, presented to UCI clinic in April 2017. Her symptoms started with difficulty climbing stairs, progressing to proximal arms, though still able to ambulate and perform daily activities. Exam was notable for limb-girdle distribution of weakness, marked scapular winging, protuberant abdomen, and lumbar lordosis, suspicious for muscular dystrophy, particularly FSHD. Evaluation showed: CK elevation of 13,000 U/L, muscle biopsy with diffuse endomysial fibrosis, myopathic rounded fibers, foci of perivascular inflammation and scattered necrosis. Myositis antibody panel x 2 (RDL), FSHD 1 and 2 and limb-girdle muscular dystrophy (LGMD) panel were negative. Patient showed no improvement with 1-2 years of IVIg (6 courses), steroids, methotrexate. Due to further progression and inability to ambulate by 2019, repeat myositis panel (Oklahoma Medical Research Foundation Lab) showed SRP antibody strongly positive at 54kD. She was subsequently treated with prednisone, IVIg, and Rituximab with significant improvement in her gait over 6 months.
We present a case of anti-SRP myopathy mimicking FSHD. In our review of the literature, there have been multiple cases initially presumed to have an unknown LGMD, however, were subsequently diagnosed with IMNM, mostly with anti-HMGCR autoantibody and rarer cases of anti-SRP. This together with our case suggests that both HMGCR and SRP myositis antibody serologic testing should be performed for patients with negative genetic testing for LGMD and FSHD.
Authors/Disclosures
Shadi Milani, DO
PRESENTER 		Dr. Milani has nothing to disclose.
Tahseen Mozaffar, MD, FÂ鶹´«Ã½Ó³»­ (University of California Irvine) Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alexion Pharmaceuticals. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Argenx. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Sanofi-Genzyme. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Amicus. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Grifols. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Astellas Gene Therapy. Dr. Mozaffar has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Bayer. Dr. Mozaffar has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Applied Therapeutics. The institution of Dr. Mozaffar has received research support from NIH. The institution of Dr. Mozaffar has received research support from Muscular Dystrophy Association. The institution of Dr. Mozaffar has received research support from Sanofi. The institution of Dr. Mozaffar has received research support from Argenx. The institution of Dr. Mozaffar has received research support from Amicus Therapeutics. The institution of Dr. Mozaffar has received research support from Astellas Gene Therpay. The institution of Dr. Mozaffar has received research support from Cartesian. The institution of Dr. Mozaffar has received research support from Cabaletta. Dr. Mozaffar has received personal compensation in the range of $500-$4,999 for serving as a Study Section Member with NIH.
Namita Goyal, MD, FÂ鶹´«Ã½Ó³»­ (University of California, Irvine) Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Annexon. Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Abcuro. Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amgen. Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Souffle. Dr. Goyal has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for CSL Behring. Dr. Goyal has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Argenx. Dr. Goyal has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Amgen. The institution of Dr. Goyal has received research support from Fulcrum. The institution of Dr. Goyal has received research support from Healey Platform. The institution of Dr. Goyal has received research support from Medicinova. The institution of Dr. Goyal has received research support from Transposon. The institution of Dr. Goyal has received research support from Abcuro. The institution of Dr. Goyal has received research support from Calico. The institution of Dr. Goyal has received research support from Clene. The institution of Dr. Goyal has received research support from Janssen. The institution of Dr. Goyal has received research support from PepGen. The institution of Dr. Goyal has received research support from PTC. The institution of Dr. Goyal has received research support from Roche. The institution of Dr. Goyal has received research support from Sanofi. The institution of Dr. Goyal has received research support from Prilenia. The institution of Dr. Goyal has received research support from RAPA. The institution of Dr. Goyal has received research support from Avidity. Dr. Goyal has received publishing royalties from a publication relating to health care.