Abstract Details

Title Carotid Artery Dissection in a Young Woman with Ullrich Congenital Muscular Dystrophy

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P5 - Poster Session 5 (5:30 PM-6:30 PM)

Poster/Presentation
Number 12-011

Objective To report new-onset carotid artery dissection (CD) in a young female patient with Ullrich Congenital Muscular Dystrophy (UCMD).

Background UCMD is a severe myopathy with underlying mutations in one of the Collagen VI genes (COL6A1, COL6A2, or COL6A3), characterized by muscle weakness, multiple joint and axial contractures, distal joint laxity, hip dislocation, follicular hyperkeratosis, and respiratory insufficiency. Vascular wall abnormalities such as CD have not been described, as can be seen in connective tissue disorders like Marfan syndrome and Ehler Danlos Syndrome (EDS).

Design/Methods Case report.

Results A 23-year-old woman with genetically confirmed UCMD (COL6A3, c.6238G>T, p.Gly2080Cys) had sudden severe worsening of her baseline five-month-old headaches. Pain was sharp/throbbing in nature, radiating to the top of the head with associated nausea, vomiting and lightheadedness. ER evaluation found her to be hypertensive with no focalizing signs or symptoms, or alteration in consciousness. She had baseline multiple limb and axial contractures. MRI of brain and MRA head /neck showed a right CD. She was started on a baby aspirin and her headaches subsequently have reduced in severity and frequency.

Conclusions Even though there are no published reports of CD in UCMD, given the clinical overlaps with EDS in Collagen VI disorders, it is not completely surprising that such a complication can occur. Pathologically, there has been evidence that in the skin of these patients, collagen VI staining is reduced or absent. However, staining for Collagen VI is variably decreased in vascular structures. Type VI collagen filamentous networks are a substrate for cell attachment, an anchoring meshwork that connects collagen fibers, nerves, and blood vessels to surrounding matrix. We propose an association between CD and collagen VI-related myopathies, such as UCMD and there should be low threshold for vascular imaging in cases with central symptoms.

Authors/Disclosures
Sarita Said-Said, MD, FAAN (Palouse Neurology) PRESENTER	Dr. Said-Said has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Gritman Medical Center.
Namita Goyal, MD, FAAN (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.
Tahseen Mozaffar, MD, FAAN (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.

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