Abstract Details

Title Congenital Myasthenic Syndrome with A Novel Agrin Gene Mutation

Topic Neuromuscular and Clinical Neurophysiology (EMG)

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

Poster/Presentation
Number 12-026

Objective To report a rare novel agrin gene mutation associated with Congenital Myasthenic Syndromes (CMS).

Background

CMS with Agrin gene mutation is a very rare genetic disorder characterized by fairly non-progressive limb girdle weakness, facial weakness, and ptosis (no extraocular weakness). Here, we report a case of CMS in a young girl who had a periodic exacerbation of her symptoms during the menstrual cycles. She was also found to have a novel Agrin gene mutation.

Design/Methods Case Report

Results A 15-year-old girl presented with a chronic history of generalized weakness, fatiguability, droopy eyes, and facial weakness. She denies progressive worsening of her symptoms but noted that they tend to flare up during the menstrual cycles. She was previously diagnosed with seronegative autoimmune myasthenia gravis and was treated with pyridostigmine and prednisone. When her symptoms did not improve, she was treated with intravenous immunoglobulin (IVIg) without any improvement. She gained weight while on prednisone and was referred to us for further opinion. On exam, she had mild fatigable ptosis with no extraocular weakness. She also had bilateral symmetric facial weakness with weakness on eye closure and loss of nasolabial folds. She had proximal symmetric weakness in the upper and lower limbs (Medical Research Council grade 4/5). There were no contractures, muscle wasting or sensory signs or symptoms. Low frequency repetitive stimulation of the right ulnar nerve showed significant decrement (>10%). Genetic testing revealed a novel mutation in the Agrin gene c.4343 C>T (P1448L). Prednisone was tapered and IVIg was stopped. Patient is currently on oral albuterol in addition to pyridostigmine with significant improvement of her symptoms.

Conclusions

Congenital myasthenic syndrome with Agrin mutation should be suspected in patients with non- progressive limb girdle weakness, ptosis, facial weakness and normal extraocular muscle strength associated with exacerbations during the menstrual cycle.

Authors/Disclosures
Gema E. Giler, MD (Thomas Jefferson University Hospital) PRESENTER	No disclosure on file
Anudeep Yelam, MD	Dr. yelam has nothing to disclose.
Elanagan Nagarajan, MD	Dr. Nagarajan has nothing to disclose.
Raghav Govindarajan, MD, FAAN (HSHS St. Elizabeth Medical Group)	Dr. Govindarajan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for MT pharma. Dr. Govindarajan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Govindarajan 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. Govindarajan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Catalyst. Dr. Govindarajan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche . Dr. Govindarajan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Govindarajan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amicus. Dr. Govindarajan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB. Dr. Govindarajan has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Alexion. Dr. Govindarajan has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for MT pharma . Dr. Govindarajan has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Catalyst. Dr. Govindarajan has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Argenx. Dr. Govindarajan has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Biohaven. Dr. Govindarajan has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for UCB. Dr. Govindarajan has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Takeda. Dr. Govindarajan has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Abbvie. The institution of Dr. Govindarajan has received research support from Band of Hope . The institution of Dr. Govindarajan has received research support from Alexion. Dr. Govindarajan has received publishing royalties from a publication relating to health care.

��ɫ��

��ɫ��