Illness-associated muscle weakness in dystroglycanopathies

Courtney R Carlson; Steven D McGaughey; Jamie M Eskuri; Carrie M Stephan; M Bridget Zimmerman; Katherine D Mathews

doi:10.1212/WNL.0000000000004720

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Illness-associated muscle weakness in dystroglycanopathies

Journal article

Open access

Peer reviewed

Illness-associated muscle weakness in dystroglycanopathies

Courtney R Carlson, Steven D McGaughey, Jamie M Eskuri, Carrie M Stephan, M Bridget Zimmerman and Katherine D Mathews

Neurology, Vol.89(23), pp.2374-2380

12/05/2017

DOI: 10.1212/WNL.0000000000004720

PMCID: PMC5719925

PMID: 29101272

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Abstract

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). 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. 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; = 0.005). Altogether (history or survey), 21 patients with DG, with mutations in , , , , or , 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. 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. NCT00313677.

Muscle Weakness - etiology

Cross-Sectional Studies

Fever - complications

Humans

Child, Preschool

Muscle Weakness - epidemiology

Genotype

Infant

Male

Muscular Dystrophy, Duchenne - epidemiology

Muscular Dystrophy, Duchenne - complications

Muscle Weakness - genetics

Muscle Proteins - genetics

Young Adult

Adolescent

Age of Onset

Adult

Dystroglycans - genetics

Female

Child

Cohort Studies

Details

Title: Subtitle: Illness-associated muscle weakness in dystroglycanopathies
Creators: Courtney R Carlson - From the Departments of Pediatrics (C.R.C., C.M.S., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; Department of Pediatrics (S.D.M.), Saint Louis Children's Hospital, MO; Department of Neurology (J.M.E.), Boston Children's Hospital, MA; and Department of Biostatistics (M.B.Z.), University of Iowa, Iowa City. Courtney-r-carlson@uiowa.edu
Steven D McGaughey - From the Departments of Pediatrics (C.R.C., C.M.S., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; Department of Pediatrics (S.D.M.), Saint Louis Children's Hospital, MO; Department of Neurology (J.M.E.), Boston Children's Hospital, MA; and Department of Biostatistics (M.B.Z.), University of Iowa, Iowa City
Jamie M Eskuri - From the Departments of Pediatrics (C.R.C., C.M.S., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; Department of Pediatrics (S.D.M.), Saint Louis Children's Hospital, MO; Department of Neurology (J.M.E.), Boston Children's Hospital, MA; and Department of Biostatistics (M.B.Z.), University of Iowa, Iowa City
Carrie M Stephan - From the Departments of Pediatrics (C.R.C., C.M.S., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; Department of Pediatrics (S.D.M.), Saint Louis Children's Hospital, MO; Department of Neurology (J.M.E.), Boston Children's Hospital, MA; and Department of Biostatistics (M.B.Z.), University of Iowa, Iowa City
M Bridget Zimmerman - From the Departments of Pediatrics (C.R.C., C.M.S., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; Department of Pediatrics (S.D.M.), Saint Louis Children's Hospital, MO; Department of Neurology (J.M.E.), Boston Children's Hospital, MA; and Department of Biostatistics (M.B.Z.), University of Iowa, Iowa City
Katherine D Mathews - From the Departments of Pediatrics (C.R.C., C.M.S., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; Department of Pediatrics (S.D.M.), Saint Louis Children's Hospital, MO; Department of Neurology (J.M.E.), Boston Children's Hospital, MA; and Department of Biostatistics (M.B.Z.), University of Iowa, Iowa City
Resource Type: Journal article
Publication Details: Neurology, Vol.89(23), pp.2374-2380
DOI: 10.1212/WNL.0000000000004720
PMID: 29101272
PMCID: PMC5719925
NLM abbreviation: Neurology
ISSN: 0028-3878
eISSN: 1526-632X
Publisher: United States
Grant note: T35 HL007485 / NHLBI NIH HHS U54 NS053672 / NINDS NIH HHS
Language: English
Date published: 12/05/2017
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biostatistics; Neurology (Pediatrics)
Record Identifier: 9983997489002771

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