Abstract Details

Title Illness Can Precipitate Weakness in Patients with Dystroglycanopathies

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) IN1 - (-)

Poster/Presentation
Number 004

Objective

Background The DGs are a heterogeneous group of muscular dystrophies caused by deficient glycosylation of ?-dystroglycan. We observed during a natural history study of DGs that participants frequently reported acute, severe muscle weakness in the setting of an illness.

Design/Methods Surveys were mailed to all patients with DBMD or a DG followed by the neuromuscular clinic for either research or clinical care. Participants were asked if they had ever had an episode of sudden progression of weakness and if so, for details of events around the time of the episode. IRB approval was obtained for all recruitment and data collection.

Results Illness-associated sudden worsening or onset of weakness was reported by approximately half of individuals with a DG interviewed as part of a natural history study. When surveyed, forty-seven percent (9/19) of individuals with a DG (mutations in FKRP, FKTN, POMT2) reported illness-associated weakness, compared to 12.1% (3/31) with DBMD (p=0.010). The illness-associated weakness led to the diagnosis of muscular dystrophy in 25% (2/8) of individuals with a DG. Time from onset of weakness after onset of illness and symptoms of illness were similar in the two groups. However duration of illness and time to recovery were longer in patients with a DG.

Conclusions Our data suggests that sudden weakness associated with an illness is reported commonly by individuals with a DG, but rarely by those with DBMD. The episodes in people with DG are more severe and protracted. Neurologists should include dystroglycanopathy in the differential diagnosis of acute illness-associated weakness.

Authors/Disclosures
Steven McGaughey PRESENTER	No disclosure on file
Jamie M. Eskuri, MD (Gillette Children's Specialty Healthcare)	No disclosure on file
	No disclosure on file
Katherine D. Mathews, MD, FAAN (University of Iowa - Dept of Pediatrics)	Dr. Mathews has received personal compensation for serving as an employee of Avidity Bioscience. The institution of Dr. Mathews has received research support from NIH. The institution of Dr. Mathews has received research support from Centers for Disease Control and Prevention. The institution of Dr. Mathews has received research support from Muscular Dystrophy Association . The institution of Dr. Mathews has received research support from Friedreich's Ataxia Research Alliance . The institution of Dr. Mathews has received research support from Sarepta . The institution of Dr. Mathews has received research support from Pfizer. The institution of Dr. Mathews has received research support from Reata . The institution of Dr. Mathews has received research support from PTC Therapeutics, Inc. The institution of Dr. Mathews has received research support from Italfarmaco . The institution of Dr. Mathews has received research support from AMO. The institution of Dr. Mathews has received research support from FibroGen. The institution of Dr. Mathews has received research support from Capricor. The institution of Dr. Mathews has received research support from edgewise. The institution of Dr. Mathews has received research support from biogen.
Jeffrey A. Wilken, PhD (NAF)	No disclosure on file

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