TY - JOUR
T1 - Illness-associated muscle weakness in dystroglycanopathies
AU - Carlson, Courtney R.
AU - McGaughey, Steven D.
AU - Eskuri, Jamie M.
AU - Stephan, Carrie M.
AU - Zimmerman, M. Bridget
AU - Mathews, Katherine D.
N1 - Funding Information:
This study was funded by the Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (MDCRC) grant from the NIH (Bethesda, MD) (NIH U54 NS053672).
Funding Information:
C. Carlson, S. McGaughey, and J. Eskuri report no disclosures relevant to the manuscript. C. Stephan has received lodging and travel reimbursements from Pfizer and NIH. M. Zimmerman receives funding from NIH grants 2 P01 HL0496925, 1 R01 HL 119882, 1 R34 AT008349-01, 5 UM1 AR063381-02, 2 U54 NS053672, 1 R01 MG104363-01A1, IU01 DK108334, 1 U54 TR0013564, and 1 R01 CA193249. K. Mathews has research supported by NIH (NINDS), CDC, and FARA; is site PI for industry-sponsored trials by Sarepta Therapeutics, Horizon Therapeutics, Pfizer, FibroGen, and PTC; and has received meals, and/or reimbursements, or honoraria to the University of Iowa within the last year from the following: Sarepta Therapeutics, Marathon, BMS, and Genzyme/ Sanofi. K. Mathews has no personal financial interest in any of the above companies. Go to Neurology.org for full disclosures.
Publisher Copyright:
© 2017 American Academy of Neurology.
PY - 2017/12
Y1 - 2017/12
N2 - Objective: To describe the phenomenon of acute illness-associated weakness (AIAW) in patients with dystroglycanopathy (DG), determine the frequency of this phenomenon in DGs, and compare it to the frequency in Duchenne-Becker muscular dystrophy (DBMD). Methods: Patients enrolled in a DG natural history study provided medical history, including major illnesses or hospitalizations, at enrollment and annually. We noted a recurring syndrome of profound transient weakness in the setting of febrile illness. To determine the frequency of this phenomenon in the DG cohort and compare it to a cohort with another membrane-related muscular dystrophy, DBMD, we surveyed patients (e-survey tool), collecting demographics and information about episodes of sudden progression of weakness and events surrounding the episodes. Results: Surveys were completed by 52 (56.6%) patients with DG and 51 (27.3%) patients with DBMD. AIAW was reported in 12 (23%) patients with DG and 2 (4%) patients with DBMD (odds ratio 7.35; 95% confidence interval 1.55, 34.77; p 5 0.005). Altogether (history or survey), 21 patients with DG, with mutations in FKRP, FKTN, POMT1, POMT2, or POMGNT1, reported AIAW. These events typically occurred in children,7 years old, and the preceding illness usually included respiratory symptoms. In 10 (47.6%) patients with DG, AIAW preceded the diagnosis of muscular dystrophy. Conclusions: People with DG, across genotypes, can experience acute, transient weakness associated with a febrile illness, a phenomenon that rarely occurs in DBMD. The physiologic basis of this phenomenon is unknown.
AB - Objective: To describe the phenomenon of acute illness-associated weakness (AIAW) in patients with dystroglycanopathy (DG), determine the frequency of this phenomenon in DGs, and compare it to the frequency in Duchenne-Becker muscular dystrophy (DBMD). Methods: Patients enrolled in a DG natural history study provided medical history, including major illnesses or hospitalizations, at enrollment and annually. We noted a recurring syndrome of profound transient weakness in the setting of febrile illness. To determine the frequency of this phenomenon in the DG cohort and compare it to a cohort with another membrane-related muscular dystrophy, DBMD, we surveyed patients (e-survey tool), collecting demographics and information about episodes of sudden progression of weakness and events surrounding the episodes. Results: Surveys were completed by 52 (56.6%) patients with DG and 51 (27.3%) patients with DBMD. AIAW was reported in 12 (23%) patients with DG and 2 (4%) patients with DBMD (odds ratio 7.35; 95% confidence interval 1.55, 34.77; p 5 0.005). Altogether (history or survey), 21 patients with DG, with mutations in FKRP, FKTN, POMT1, POMT2, or POMGNT1, reported AIAW. These events typically occurred in children,7 years old, and the preceding illness usually included respiratory symptoms. In 10 (47.6%) patients with DG, AIAW preceded the diagnosis of muscular dystrophy. Conclusions: People with DG, across genotypes, can experience acute, transient weakness associated with a febrile illness, a phenomenon that rarely occurs in DBMD. The physiologic basis of this phenomenon is unknown.
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U2 - 10.1212/WNL.0000000000004720
DO - 10.1212/WNL.0000000000004720
M3 - Article
C2 - 29101272
AN - SCOPUS:85038229210
VL - 89
SP - 2374
EP - 2380
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 23
ER -