Key Takeaway
Acute illness-associated weakness was reported more often in the surveyed dystroglycanopathy group, especially in young children, but this mixed-gene retrospective evidence cannot define an individual emergency pathway or treatment.
Evidence Summary
Illness-associated muscle weakness in dystroglycanopathies
Natural-history and survey study describing acute, transient weakness around febrile illness across several dystroglycanopathy genes.
cohortPhenotypeCongenital DiseaseFamilies
Citation: Carlson CR, McGaughey SD, Eskuri JM, et al. Illness-associated muscle weakness in dystroglycanopathies. Neurology. 2017;89(23):2374-2380.
Main findings
- Fifty-two of 92 invited dystroglycanopathy participants completed the survey; 12 survey responses met the study definition of illness-associated weakness.
- Combining survey and medical-history sources identified 21 affected participants across several dystroglycanopathy genes, including FKRP.
- Medical records or hospitalization notes were available for 12 of those 21 participants, while other descriptions depended on recall.
Practical relevance
- Helps clinicians recognize a reported phenomenon that may appear in the history of a person with a dystroglycanopathy.
- Supports documenting illness-associated changes for clinical review without converting the paper into a home treatment or triage protocol.
Limitations and cautions
- Retrospective reports, incomplete records, different survey response rates, and a mixed-gene cohort limit frequency estimates and FKRP-specific conclusions.
- The physiologic mechanism was unknown, and the observational data did not establish benefit from treatments received during episodes.
- The paper does not provide validated urgency categories, laboratory thresholds, fluid instructions, fasting rules, or medication guidance.
Primary Sources
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Full text used to check the mixed-gene population, survey design, record availability, funding, disclosures, and limitations.
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Glossary
Dystroglycanopathy
A group of disorders caused by problems in alpha-dystroglycan glycosylation, including diseases linked to FKRP.